Single-nucleotide polymorphism (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Single-nucleotide polymorphism" in English language version.

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100nih.gov

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60doi.org

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24worldcat.org

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13harvard.edu

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9semanticscholar.org

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1nature.com

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1academie-sciences.fr

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1cancer.gov

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1medlineplus.gov

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1researchgate.net

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1genengnews.com

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1genomicscomputbiol.org

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academie-sciences.fr

comptes-rendus.academie-sciences.fr

Calippe, Bertrand; Guillonneau, Xavier; Sennlaub, Florian (March 2014). "Complement factor H and related proteins in age-related macular degeneration". Comptes Rendus Biologies. 337 (3): 178–184. doi:10.1016/j.crvi.2013.12.003. ISSN 1631-0691. PMID 24702844.

cancer.gov

"Definition of single nucleotide variant - NCI Dictionary of Genetics Terms". www.cancer.gov. 2012-07-20. Retrieved 2023-05-02.

doi.org

Sherry, S. T.; Ward, M.; Sirotkin, K. (1999). "dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation". Genome Research. 9 (8): 677–679. doi:10.1101/gr.9.8.677. PMID 10447503. S2CID 10775908.
Lander, E. S.; et al. (2001). "Initial sequencing and analysis of the human genome". Nature. 409 (6822): 860–921. Bibcode:2001Natur.409..860L. doi:10.1038/35057062. hdl:2027.42/62798. PMID 11237011.
Auton, Adam; et al. (2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Monga, Isha; Qureshi, Abid; Thakur, Nishant; Gupta, Amit Kumar; Kumar, Manoj (September 2017). "ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy". G3. 7 (9): 2931–2943. doi:10.1534/g3.117.044024. PMC 5592921. PMID 28696921.
Calippe, Bertrand; Guillonneau, Xavier; Sennlaub, Florian (March 2014). "Complement factor H and related proteins in age-related macular degeneration". Comptes Rendus Biologies. 337 (3): 178–184. doi:10.1016/j.crvi.2013.12.003. ISSN 1631-0691. PMID 24702844.
Husain, Mohammed Amir; Laurent, Benoit; Plourde, Mélanie (2021-02-17). "APOE and Alzheimer's Disease: From Lipid Transport to Physiopathology and Therapeutics". Frontiers in Neuroscience. 15: 630502. doi:10.3389/fnins.2021.630502. ISSN 1662-453X. PMC 7925634. PMID 33679311.
Wright, Alan F (September 23, 2005), "Genetic Variation: Polymorphisms and Mutations", eLS, Wiley, doi:10.1038/npg.els.0005005, ISBN 9780470016176, S2CID 82415195
Goya, R.; Sun, M. G.; Morin, R. D.; Leung, G.; Ha, G.; Wiegand, K. C.; Senz, J.; Crisan, A.; Marra, M. A.; Hirst, M.; Huntsman, D.; Murphy, K. P.; Aparicio, S.; Shah, S. P. (2010). "SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors". Bioinformatics. 26 (6): 730–736. doi:10.1093/bioinformatics/btq040. PMC 2832826. PMID 20130035.
Katsonis, Panagiotis; Koire, Amanda; Wilson, Stephen Joseph; Hsu, Teng-Kuei; Lua, Rhonald C.; Wilkins, Angela Dawn; Lichtarge, Olivier (2014-10-20). "Single nucleotide variations: Biological impact and theoretical interpretation". Protein Science. 23 (12): 1650–1666. doi:10.1002/pro.2552. ISSN 0961-8368. PMC 4253807. PMID 25234433.
Khurana, Ekta; Fu, Yao; Chakravarty, Dimple; Demichelis, Francesca; Rubin, Mark A.; Gerstein, Mark (2016-01-19). "Role of non-coding sequence variants in cancer". Nature Reviews Genetics. 17 (2): 93–108. doi:10.1038/nrg.2015.17. ISSN 1471-0056. PMID 26781813. S2CID 14433306.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (July 15, 2015). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8 (1). Springer Science and Business Media LLC: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Spencer, Paige S.; Barral, José M. (2012). "Genetic code redundancy and its influence on the encoded polypeptides". Computational and Structural Biotechnology Journal. 1: e201204006. doi:10.5936/csbj.201204006. ISSN 2001-0370. PMC 3962081. PMID 24688635.
Chu, Duan; Wei, Lai (2019-04-16). "Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation". BMC Cancer. 19 (1): 359. doi:10.1186/s12885-019-5572-x. ISSN 1471-2407. PMC 6469204. PMID 30991970.
Li G, Pan T, Guo D, Li LC (2014). "Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example". Molecular Biology International. 2014: 967565. doi:10.1155/2014/967565. PMC 4167656. PMID 25276428.
Lu YF, Mauger DM, Goldstein DB, Urban TJ, Weeks KM, Bradrick SS (November 2015). "IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance". Scientific Reports. 5: 16037. Bibcode:2015NatSR...516037L. doi:10.1038/srep16037. PMC 4631997. PMID 26531896.
Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (January 2007). "A "silent" polymorphism in the MDR1 gene changes substrate specificity". Science. 315 (5811): 525–8. Bibcode:2007Sci...315..525K. doi:10.1126/science.1135308. PMID 17185560. S2CID 15146955.
Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". European Journal of Human Genetics. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
Cordovado SK, Hendrix M, Greene CN, Mochal S, Earley MC, Farrell PM, Kharrazi M, Hannon WH, Mueller PW (February 2012). "CFTR mutation analysis and haplotype associations in CF patients". Molecular Genetics and Metabolism. 105 (2): 249–54. doi:10.1016/j.ymgme.2011.10.013. PMC 3551260. PMID 22137130.
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (October 2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L (March 2008). "Natural selection has driven population differentiation in modern humans". Nature Genetics. 40 (3): 340–5. doi:10.1038/ng.78. PMID 18246066. S2CID 205357396.
Nachman MW (September 2001). "Single nucleotide polymorphisms and recombination rate in humans". Trends in Genetics. 17 (9): 481–5. doi:10.1016/S0168-9525(01)02409-X. PMID 11525814.
Varela MA, Amos W (March 2010). "Heterogeneous distribution of SNPs in the human genome: microsatellites as predictors of nucleotide diversity and divergence". Genomics. 95 (3): 151–9. doi:10.1016/j.ygeno.2009.12.003. PMID 20026267.
Bergström A, McCarthy SA, Hui R, Almarri MA, Ayub Q, Danecek P; et al. (2020). "Insights into human genetic variation and population history from 929 diverse genomes". Science. 367 (6484): eaay5012. doi:10.1126/science.aay5012. PMC 7115999. PMID 32193295.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Zhu Z, Yuan D, Luo D, Lu X, Huang S (2015-07-24). "Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease". PLOS ONE. 10 (7): e0133421. Bibcode:2015PLoSO..1033421Z. doi:10.1371/journal.pone.0133421. PMC 4514478. PMID 26207627.
Hivert, Valentin; Leblois, Raphaël; Petit, Eric J.; Gautier, Mathieu; Vitalis, Renaud (2018-07-30). "Measuring Genetic Differentiation from Pool-seq Data". Genetics. 210 (1): 315–330. doi:10.1534/genetics.118.300900. ISSN 0016-6731. PMC 6116966. PMID 30061425.
Ekblom, R; Galindo, J (2010-12-08). "Applications of next generation sequencing in molecular ecology of non-model organisms". Heredity. 107 (1): 1–15. doi:10.1038/hdy.2010.152. ISSN 0018-067X. PMC 3186121. PMID 21139633.
Ellegren, Hans (January 2014). "Genome sequencing and population genomics in non-model organisms". Trends in Ecology & Evolution. 29 (1): 51–63. Bibcode:2014TEcoE..29...51E. doi:10.1016/j.tree.2013.09.008. ISSN 0169-5347. PMID 24139972.
Dorant, Yann; Benestan, Laura; Rougemont, Quentin; Normandeau, Eric; Boyle, Brian; Rochette, Rémy; Bernatchez, Louis (2019). "Comparing Pool-seq, Rapture, and GBS genotyping for inferring weak population structure: The American lobster (Homarus americanus) as a case study". Ecology and Evolution. 9 (11): 6606–6623. Bibcode:2019EcoEv...9.6606D. doi:10.1002/ece3.5240. ISSN 2045-7758. PMC 6580275. PMID 31236247.
Vendrami, David L. J.; Telesca, Luca; Weigand, Hannah; Weiss, Martina; Fawcett, Katie; Lehman, Katrin; Clark, M. S.; Leese, Florian; McMinn, Carrie; Moore, Heather; Hoffman, Joseph I. (2017). "RAD sequencing resolves fine-scale population structure in a benthic invertebrate: implications for understanding phenotypic plasticity". Royal Society Open Science. 4 (2): 160548. Bibcode:2017RSOS....460548V. doi:10.1098/rsos.160548. PMC 5367306. PMID 28386419.
Zhang K, Qin ZS, Liu JS, Chen T, Waterman MS, Sun F (May 2004). "Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies". Genome Research. 14 (5): 908–16. doi:10.1101/gr.1837404. PMC 479119. PMID 15078859.
Stimson J, Gardy J, Mathema B, Crudu V, Cohen T, Colijn C (25 January 2019). "Beyond the SNP Threshold: Identifying Outbreak Clusters Using Inferred Transmissions". Molecular Biology and Evolution. 36 (3): 587–603. doi:10.1093/molbev/msy242. PMC 6389316. PMID 30690464.
Visscher, Peter M.; Wray, Naomi R.; Zhang, Qian; Sklar, Pamela; McCarthy, Mark I.; Brown, Matthew A.; Yang, Jian (July 2017). "10 Years of GWAS Discovery: Biology, Function, and Translation". The American Journal of Human Genetics. 101 (1): 5–22. doi:10.1016/j.ajhg.2017.06.005. ISSN 0002-9297. PMC 5501872. PMID 28686856.
Dong, Linda M.; Potter, John D.; White, Emily; Ulrich, Cornelia M.; Cardon, Lon R.; Peters, Ulrike (2008-05-28). "Genetic Susceptibility to Cancer". JAMA. 299 (20): 2423–2436. doi:10.1001/jama.299.20.2423. ISSN 0098-7484. PMC 2772197. PMID 18505952.
Alkuraya, Fowzan S. (April 2010). "Homozygosity mapping: One more tool in the clinical geneticist's toolbox". Genetics in Medicine. 12 (4): 236–239. doi:10.1097/gim.0b013e3181ceb95d. ISSN 1098-3600. PMID 20134328. S2CID 10789932.
Vohra, Manik; Sharma, Anu Radha; Prabhu B, Navya; Rai, Padmalatha S. (2020). "SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review". Public Health Genomics. 23 (5–6): 155–170. doi:10.1159/000510253. ISSN 1662-4246. PMID 32966991. S2CID 221886624.
Wang, Jing; Ma, Xiaoqin; Zhang, Qi; Chen, Yinghui; Wu, Dan; Zhao, Pengjun; Yu, Yu (2021). "The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases". Frontiers in Cell and Developmental Biology. 9: 665514. doi:10.3389/fcell.2021.665514. ISSN 2296-634X. PMC 8143053. PMID 34041244.
Hawe, Johann S.; Wilson, Rory; Schmid, Katharina T.; Zhou, Li; Lakshmanan, Lakshmi Narayanan; Lehne, Benjamin C.; Kühnel, Brigitte; Scott, William R.; Wielscher, Matthias; Yew, Yik Weng; Baumbach, Clemens; Lee, Dominic P.; Marouli, Eirini; Bernard, Manon; Pfeiffer, Liliane (January 2022). "Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function". Nature Genetics. 54 (1): 18–29. doi:10.1038/s41588-021-00969-x. ISSN 1546-1718. PMC 7617265. PMID 34980917. S2CID 256821844.
Perzel Mandell, Kira A.; Eagles, Nicholas J.; Wilton, Richard; Price, Amanda J.; Semick, Stephen A.; Collado-Torres, Leonardo; Ulrich, William S.; Tao, Ran; Han, Shizhong; Szalay, Alexander S.; Hyde, Thomas M.; Kleinman, Joel E.; Weinberger, Daniel R.; Jaffe, Andrew E. (2021-09-02). "Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk". Nature Communications. 12 (1): 5251. Bibcode:2021NatCo..12.5251P. doi:10.1038/s41467-021-25517-3. ISSN 2041-1723. PMC 8413445. PMID 34475392.
Hoffmann, Anke; Ziller, Michael; Spengler, Dietmar (December 2016). "The Future is The Past: Methylation QTLs in Schizophrenia". Genes. 7 (12): 104. doi:10.3390/genes7120104. ISSN 2073-4425. PMC 5192480. PMID 27886132.
Daly, Ann K (2017-10-11). "Pharmacogenetics: a general review on progress to date". British Medical Bulletin. 124 (1): 65–79. doi:10.1093/bmb/ldx035. ISSN 0007-1420. PMID 29040422.
Musci, Rashelle J.; Augustinavicius, Jura L.; Volk, Heather (2019-08-13). "Gene-Environment Interactions in Psychiatry: Recent Evidence and Clinical Implications". Current Psychiatry Reports. 21 (9): 81. doi:10.1007/s11920-019-1065-5. ISSN 1523-3812. PMC 7340157. PMID 31410638.
Giegling I, Hartmann AM, Möller HJ, Rujescu D (November 2006). "Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene". Journal of Affective Disorders. 96 (1–2): 75–81. doi:10.1016/j.jad.2006.05.016. PMID 16814396.
Ezzeddini R, Somi MH, Taghikhani M, Moaddab SY, Masnadi Shirazi K, Shirmohammadi M, Eftekharsadat AT, Sadighi Moghaddam B, Salek Farrokhi A (February 2021). "Association of Foxp3 rs3761548 polymorphism with cytokines concentration in gastric adenocarcinoma patients". Cytokine. 138: 155351. doi:10.1016/j.cyto.2020.155351. ISSN 1043-4666. PMID 33127257. S2CID 226218796.
Kujovich JL (January 2011). "Factor V Leiden thrombophilia". Genetics in Medicine. 13 (1): 1–16. doi:10.1097/GIM.0b013e3181faa0f2. PMID 21116184.
Morita A, Nakayama T, Doba N, Hinohara S, Mizutani T, Soma M (June 2007). "Genotyping of triallelic SNPs using TaqMan PCR". Molecular and Cellular Probes. 21 (3): 171–6. doi:10.1016/j.mcp.2006.10.005. PMID 17161935.
Prodi DA, Drayna D, Forabosco P, Palmas MA, Maestrale GB, Piras D, Pirastu M, Angius A (October 2004). "Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene". Chemical Senses. 29 (8): 697–702. doi:10.1093/chemse/bjh074. PMID 15466815.
Ammitzbøll CG, Kjær TR, Steffensen R, Stengaard-Pedersen K, Nielsen HJ, Thiel S, Bøgsted M, Jensenius JC (28 November 2012). "Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin". PLOS ONE. 7 (11): e50585. Bibcode:2012PLoSO...750585A. doi:10.1371/journal.pone.0050585. PMC 3509001. PMID 23209787.
Guenther, Catherine A.; Tasic, Bosiljka; Luo, Liqun; Bedell, Mary A.; Kingsley, David M. (July 2014). "A molecular basis for classic blond hair color in Europeans". Nature Genetics. 46 (7): 748–752. doi:10.1038/ng.2991. ISSN 1546-1718. PMC 4704868. PMID 24880339.
Ji G, Long Y, Zhou Y, Huang C, Gu A, Wang X (May 2012). "Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility". BMC Medicine. 10: 49. doi:10.1186/1741-7015-10-49. PMC 3378460. PMID 22594646.
Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC (November 2011). "Kaviar: an accessible system for testing SNV novelty". Bioinformatics. 27 (22): 3216–7. doi:10.1093/bioinformatics/btr540. PMC 3208392. PMID 21965822.
Cao R, Shi Y, Chen S, Ma Y, Chen J, Yang J, Chen G, Shi T (January 2017). "dbSAP: single amino-acid polymorphism database for protein variation detection". Nucleic Acids Research. 45 (D1): D827 – D832. doi:10.1093/nar/gkw1096. PMC 5210569. PMID 27903894.
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D (February 2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature. 409 (6822): 928–33. Bibcode:2001Natur.409..928S. doi:10.1038/35057149. PMID 11237013.
den Dunnen JT, Antonarakis SE (2000). "Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion". Human Mutation. 15 (1): 7–12. doi:10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N. PMID 10612815.
Ogino S, Gulley ML, den Dunnen JT, Wilson RB (February 2007). "Standard mutation nomenclature in molecular diagnostics: practical and educational challenges". The Journal of Molecular Diagnostics. 9 (1): 1–6. doi:10.2353/jmoldx.2007.060081. PMC 1867422. PMID 17251329.
Johnson, Andrew D. (October 2009). "SNP bioinformatics: a comprehensive review of resources". Circulation: Cardiovascular Genetics. 2 (5): 530–536. doi:10.1161/CIRCGENETICS.109.872010. ISSN 1942-325X. PMC 2789466. PMID 20031630.
Malhis N, Jones SJ, Gsponer J (April 2019). "Improved measures for evolutionary conservation that exploit taxonomy distances". Nature Communications. 10 (1): 1556. Bibcode:2019NatCo..10.1556M. doi:10.1038/s41467-019-09583-2. PMC 6450959. PMID 30952844.
Nawar Malhis; Matthew Jacobson; Steven J. M. Jones; Jörg Gsponer (2020). "LIST-S2: Taxonomy Based Sorting of Deleterious Missense Mutations Across Species". Nucleic Acids Research. 48 (W1): W154 – W161. doi:10.1093/nar/gkaa288. PMC 7319545. PMID 32352516.
"View of SNPViz - Visualization of SNPs in proteins". genomicscomputbiol.org. doi:10.18547/gcb.2018.vol4.iss1.e100048. Archived from the original on 2020-08-07. Retrieved 2018-10-20.
Ofoegbu TC, David A, Kelley LA, Mezulis S, Islam SA, Mersmann SF, et al. (June 2019). "PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants". Journal of Molecular Biology. 431 (13): 2460–2466. doi:10.1016/j.jmb.2019.04.043. PMC 6597944. PMID 31075275.
Ittisoponpisan S, Islam SA, Khanna T, Alhuzimi E, David A, Sternberg MJ (May 2019). "Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?". Journal of Molecular Biology. 431 (11): 2197–2212. doi:10.1016/j.jmb.2019.04.009. PMC 6544567. PMID 30995449.

genengnews.com

Carlson, Bruce (15 June 2008). "SNPs — A Shortcut to Personalized Medicine". Genetic Engineering & Biotechnology News. 28 (12). Mary Ann Liebert, Inc. Archived from the original on 26 December 2010. Retrieved 2008-07-06. (subtitle) Medical applications are where the market's growth is expected

genomicscomputbiol.org

"View of SNPViz - Visualization of SNPs in proteins". genomicscomputbiol.org. doi:10.18547/gcb.2018.vol4.iss1.e100048. Archived from the original on 2020-08-07. Retrieved 2018-10-20.

handle.net

hdl.handle.net

Lander, E. S.; et al. (2001). "Initial sequencing and analysis of the human genome". Nature. 409 (6822): 860–921. Bibcode:2001Natur.409..860L. doi:10.1038/35057062. hdl:2027.42/62798. PMID 11237011.

harvard.edu

ui.adsabs.harvard.edu

Lander, E. S.; et al. (2001). "Initial sequencing and analysis of the human genome". Nature. 409 (6822): 860–921. Bibcode:2001Natur.409..860L. doi:10.1038/35057062. hdl:2027.42/62798. PMID 11237011.
Auton, Adam; et al. (2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Lu YF, Mauger DM, Goldstein DB, Urban TJ, Weeks KM, Bradrick SS (November 2015). "IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance". Scientific Reports. 5: 16037. Bibcode:2015NatSR...516037L. doi:10.1038/srep16037. PMC 4631997. PMID 26531896.
Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (January 2007). "A "silent" polymorphism in the MDR1 gene changes substrate specificity". Science. 315 (5811): 525–8. Bibcode:2007Sci...315..525K. doi:10.1126/science.1135308. PMID 17185560. S2CID 15146955.
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (October 2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Zhu Z, Yuan D, Luo D, Lu X, Huang S (2015-07-24). "Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease". PLOS ONE. 10 (7): e0133421. Bibcode:2015PLoSO..1033421Z. doi:10.1371/journal.pone.0133421. PMC 4514478. PMID 26207627.
Ellegren, Hans (January 2014). "Genome sequencing and population genomics in non-model organisms". Trends in Ecology & Evolution. 29 (1): 51–63. Bibcode:2014TEcoE..29...51E. doi:10.1016/j.tree.2013.09.008. ISSN 0169-5347. PMID 24139972.
Dorant, Yann; Benestan, Laura; Rougemont, Quentin; Normandeau, Eric; Boyle, Brian; Rochette, Rémy; Bernatchez, Louis (2019). "Comparing Pool-seq, Rapture, and GBS genotyping for inferring weak population structure: The American lobster (Homarus americanus) as a case study". Ecology and Evolution. 9 (11): 6606–6623. Bibcode:2019EcoEv...9.6606D. doi:10.1002/ece3.5240. ISSN 2045-7758. PMC 6580275. PMID 31236247.
Vendrami, David L. J.; Telesca, Luca; Weigand, Hannah; Weiss, Martina; Fawcett, Katie; Lehman, Katrin; Clark, M. S.; Leese, Florian; McMinn, Carrie; Moore, Heather; Hoffman, Joseph I. (2017). "RAD sequencing resolves fine-scale population structure in a benthic invertebrate: implications for understanding phenotypic plasticity". Royal Society Open Science. 4 (2): 160548. Bibcode:2017RSOS....460548V. doi:10.1098/rsos.160548. PMC 5367306. PMID 28386419.
Perzel Mandell, Kira A.; Eagles, Nicholas J.; Wilton, Richard; Price, Amanda J.; Semick, Stephen A.; Collado-Torres, Leonardo; Ulrich, William S.; Tao, Ran; Han, Shizhong; Szalay, Alexander S.; Hyde, Thomas M.; Kleinman, Joel E.; Weinberger, Daniel R.; Jaffe, Andrew E. (2021-09-02). "Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk". Nature Communications. 12 (1): 5251. Bibcode:2021NatCo..12.5251P. doi:10.1038/s41467-021-25517-3. ISSN 2041-1723. PMC 8413445. PMID 34475392.
Ammitzbøll CG, Kjær TR, Steffensen R, Stengaard-Pedersen K, Nielsen HJ, Thiel S, Bøgsted M, Jensenius JC (28 November 2012). "Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin". PLOS ONE. 7 (11): e50585. Bibcode:2012PLoSO...750585A. doi:10.1371/journal.pone.0050585. PMC 3509001. PMID 23209787.
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D (February 2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature. 409 (6822): 928–33. Bibcode:2001Natur.409..928S. doi:10.1038/35057149. PMID 11237013.
Malhis N, Jones SJ, Gsponer J (April 2019). "Improved measures for evolutionary conservation that exploit taxonomy distances". Nature Communications. 10 (1): 1556. Bibcode:2019NatCo..10.1556M. doi:10.1038/s41467-019-09583-2. PMC 6450959. PMID 30952844.

hgvs.org

J.T. Den Dunnen (2008-02-20). "Recommendations for the description of sequence variants". Human Genome Variation Society. Archived from the original on 2008-09-14. Retrieved 2008-09-05.

varnomen.hgvs.org

"Sequence Variant Nomenclature". varnomen.hgvs.org. Retrieved 2019-12-02.

lh3.github.io

Li, Heng (March 15, 2021). "SNP vs SNV". Heng Li's blog. Retrieved May 3, 2023.

medlineplus.gov

"What are single nucleotide polymorphisms (SNPs)?: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-03-22.

nature.com

"single-nucleotide polymorphism / SNP | Learn Science at Scitable". www.nature.com. Archived from the original on 2015-11-10. Retrieved 2015-11-13.

nih.gov

pubmed.ncbi.nlm.nih.gov

Sherry, S. T.; Ward, M.; Sirotkin, K. (1999). "dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation". Genome Research. 9 (8): 677–679. doi:10.1101/gr.9.8.677. PMID 10447503. S2CID 10775908.
Lander, E. S.; et al. (2001). "Initial sequencing and analysis of the human genome". Nature. 409 (6822): 860–921. Bibcode:2001Natur.409..860L. doi:10.1038/35057062. hdl:2027.42/62798. PMID 11237011.
Auton, Adam; et al. (2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Monga, Isha; Qureshi, Abid; Thakur, Nishant; Gupta, Amit Kumar; Kumar, Manoj (September 2017). "ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy". G3. 7 (9): 2931–2943. doi:10.1534/g3.117.044024. PMC 5592921. PMID 28696921.
Calippe, Bertrand; Guillonneau, Xavier; Sennlaub, Florian (March 2014). "Complement factor H and related proteins in age-related macular degeneration". Comptes Rendus Biologies. 337 (3): 178–184. doi:10.1016/j.crvi.2013.12.003. ISSN 1631-0691. PMID 24702844.
Husain, Mohammed Amir; Laurent, Benoit; Plourde, Mélanie (2021-02-17). "APOE and Alzheimer's Disease: From Lipid Transport to Physiopathology and Therapeutics". Frontiers in Neuroscience. 15: 630502. doi:10.3389/fnins.2021.630502. ISSN 1662-453X. PMC 7925634. PMID 33679311.
Goya, R.; Sun, M. G.; Morin, R. D.; Leung, G.; Ha, G.; Wiegand, K. C.; Senz, J.; Crisan, A.; Marra, M. A.; Hirst, M.; Huntsman, D.; Murphy, K. P.; Aparicio, S.; Shah, S. P. (2010). "SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors". Bioinformatics. 26 (6): 730–736. doi:10.1093/bioinformatics/btq040. PMC 2832826. PMID 20130035.
Katsonis, Panagiotis; Koire, Amanda; Wilson, Stephen Joseph; Hsu, Teng-Kuei; Lua, Rhonald C.; Wilkins, Angela Dawn; Lichtarge, Olivier (2014-10-20). "Single nucleotide variations: Biological impact and theoretical interpretation". Protein Science. 23 (12): 1650–1666. doi:10.1002/pro.2552. ISSN 0961-8368. PMC 4253807. PMID 25234433.
Khurana, Ekta; Fu, Yao; Chakravarty, Dimple; Demichelis, Francesca; Rubin, Mark A.; Gerstein, Mark (2016-01-19). "Role of non-coding sequence variants in cancer". Nature Reviews Genetics. 17 (2): 93–108. doi:10.1038/nrg.2015.17. ISSN 1471-0056. PMID 26781813. S2CID 14433306.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (July 15, 2015). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8 (1). Springer Science and Business Media LLC: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Spencer, Paige S.; Barral, José M. (2012). "Genetic code redundancy and its influence on the encoded polypeptides". Computational and Structural Biotechnology Journal. 1: e201204006. doi:10.5936/csbj.201204006. ISSN 2001-0370. PMC 3962081. PMID 24688635.
Chu, Duan; Wei, Lai (2019-04-16). "Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation". BMC Cancer. 19 (1): 359. doi:10.1186/s12885-019-5572-x. ISSN 1471-2407. PMC 6469204. PMID 30991970.
Li G, Pan T, Guo D, Li LC (2014). "Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example". Molecular Biology International. 2014: 967565. doi:10.1155/2014/967565. PMC 4167656. PMID 25276428.
Lu YF, Mauger DM, Goldstein DB, Urban TJ, Weeks KM, Bradrick SS (November 2015). "IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance". Scientific Reports. 5: 16037. Bibcode:2015NatSR...516037L. doi:10.1038/srep16037. PMC 4631997. PMID 26531896.
Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (January 2007). "A "silent" polymorphism in the MDR1 gene changes substrate specificity". Science. 315 (5811): 525–8. Bibcode:2007Sci...315..525K. doi:10.1126/science.1135308. PMID 17185560. S2CID 15146955.
Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". European Journal of Human Genetics. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
Cordovado SK, Hendrix M, Greene CN, Mochal S, Earley MC, Farrell PM, Kharrazi M, Hannon WH, Mueller PW (February 2012). "CFTR mutation analysis and haplotype associations in CF patients". Molecular Genetics and Metabolism. 105 (2): 249–54. doi:10.1016/j.ymgme.2011.10.013. PMC 3551260. PMID 22137130.
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (October 2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L (March 2008). "Natural selection has driven population differentiation in modern humans". Nature Genetics. 40 (3): 340–5. doi:10.1038/ng.78. PMID 18246066. S2CID 205357396.
Nachman MW (September 2001). "Single nucleotide polymorphisms and recombination rate in humans". Trends in Genetics. 17 (9): 481–5. doi:10.1016/S0168-9525(01)02409-X. PMID 11525814.
Varela MA, Amos W (March 2010). "Heterogeneous distribution of SNPs in the human genome: microsatellites as predictors of nucleotide diversity and divergence". Genomics. 95 (3): 151–9. doi:10.1016/j.ygeno.2009.12.003. PMID 20026267.
Bergström A, McCarthy SA, Hui R, Almarri MA, Ayub Q, Danecek P; et al. (2020). "Insights into human genetic variation and population history from 929 diverse genomes". Science. 367 (6484): eaay5012. doi:10.1126/science.aay5012. PMC 7115999. PMID 32193295.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Zhu Z, Yuan D, Luo D, Lu X, Huang S (2015-07-24). "Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease". PLOS ONE. 10 (7): e0133421. Bibcode:2015PLoSO..1033421Z. doi:10.1371/journal.pone.0133421. PMC 4514478. PMID 26207627.
Hivert, Valentin; Leblois, Raphaël; Petit, Eric J.; Gautier, Mathieu; Vitalis, Renaud (2018-07-30). "Measuring Genetic Differentiation from Pool-seq Data". Genetics. 210 (1): 315–330. doi:10.1534/genetics.118.300900. ISSN 0016-6731. PMC 6116966. PMID 30061425.
Ekblom, R; Galindo, J (2010-12-08). "Applications of next generation sequencing in molecular ecology of non-model organisms". Heredity. 107 (1): 1–15. doi:10.1038/hdy.2010.152. ISSN 0018-067X. PMC 3186121. PMID 21139633.
Ellegren, Hans (January 2014). "Genome sequencing and population genomics in non-model organisms". Trends in Ecology & Evolution. 29 (1): 51–63. Bibcode:2014TEcoE..29...51E. doi:10.1016/j.tree.2013.09.008. ISSN 0169-5347. PMID 24139972.
Dorant, Yann; Benestan, Laura; Rougemont, Quentin; Normandeau, Eric; Boyle, Brian; Rochette, Rémy; Bernatchez, Louis (2019). "Comparing Pool-seq, Rapture, and GBS genotyping for inferring weak population structure: The American lobster (Homarus americanus) as a case study". Ecology and Evolution. 9 (11): 6606–6623. Bibcode:2019EcoEv...9.6606D. doi:10.1002/ece3.5240. ISSN 2045-7758. PMC 6580275. PMID 31236247.
Vendrami, David L. J.; Telesca, Luca; Weigand, Hannah; Weiss, Martina; Fawcett, Katie; Lehman, Katrin; Clark, M. S.; Leese, Florian; McMinn, Carrie; Moore, Heather; Hoffman, Joseph I. (2017). "RAD sequencing resolves fine-scale population structure in a benthic invertebrate: implications for understanding phenotypic plasticity". Royal Society Open Science. 4 (2): 160548. Bibcode:2017RSOS....460548V. doi:10.1098/rsos.160548. PMC 5367306. PMID 28386419.
Zhang K, Qin ZS, Liu JS, Chen T, Waterman MS, Sun F (May 2004). "Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies". Genome Research. 14 (5): 908–16. doi:10.1101/gr.1837404. PMC 479119. PMID 15078859.
Stimson J, Gardy J, Mathema B, Crudu V, Cohen T, Colijn C (25 January 2019). "Beyond the SNP Threshold: Identifying Outbreak Clusters Using Inferred Transmissions". Molecular Biology and Evolution. 36 (3): 587–603. doi:10.1093/molbev/msy242. PMC 6389316. PMID 30690464.
Visscher, Peter M.; Wray, Naomi R.; Zhang, Qian; Sklar, Pamela; McCarthy, Mark I.; Brown, Matthew A.; Yang, Jian (July 2017). "10 Years of GWAS Discovery: Biology, Function, and Translation". The American Journal of Human Genetics. 101 (1): 5–22. doi:10.1016/j.ajhg.2017.06.005. ISSN 0002-9297. PMC 5501872. PMID 28686856.
Dong, Linda M.; Potter, John D.; White, Emily; Ulrich, Cornelia M.; Cardon, Lon R.; Peters, Ulrike (2008-05-28). "Genetic Susceptibility to Cancer". JAMA. 299 (20): 2423–2436. doi:10.1001/jama.299.20.2423. ISSN 0098-7484. PMC 2772197. PMID 18505952.
Alkuraya, Fowzan S. (April 2010). "Homozygosity mapping: One more tool in the clinical geneticist's toolbox". Genetics in Medicine. 12 (4): 236–239. doi:10.1097/gim.0b013e3181ceb95d. ISSN 1098-3600. PMID 20134328. S2CID 10789932.
Vohra, Manik; Sharma, Anu Radha; Prabhu B, Navya; Rai, Padmalatha S. (2020). "SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review". Public Health Genomics. 23 (5–6): 155–170. doi:10.1159/000510253. ISSN 1662-4246. PMID 32966991. S2CID 221886624.
Wang, Jing; Ma, Xiaoqin; Zhang, Qi; Chen, Yinghui; Wu, Dan; Zhao, Pengjun; Yu, Yu (2021). "The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases". Frontiers in Cell and Developmental Biology. 9: 665514. doi:10.3389/fcell.2021.665514. ISSN 2296-634X. PMC 8143053. PMID 34041244.
Hawe, Johann S.; Wilson, Rory; Schmid, Katharina T.; Zhou, Li; Lakshmanan, Lakshmi Narayanan; Lehne, Benjamin C.; Kühnel, Brigitte; Scott, William R.; Wielscher, Matthias; Yew, Yik Weng; Baumbach, Clemens; Lee, Dominic P.; Marouli, Eirini; Bernard, Manon; Pfeiffer, Liliane (January 2022). "Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function". Nature Genetics. 54 (1): 18–29. doi:10.1038/s41588-021-00969-x. ISSN 1546-1718. PMC 7617265. PMID 34980917. S2CID 256821844.
Perzel Mandell, Kira A.; Eagles, Nicholas J.; Wilton, Richard; Price, Amanda J.; Semick, Stephen A.; Collado-Torres, Leonardo; Ulrich, William S.; Tao, Ran; Han, Shizhong; Szalay, Alexander S.; Hyde, Thomas M.; Kleinman, Joel E.; Weinberger, Daniel R.; Jaffe, Andrew E. (2021-09-02). "Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk". Nature Communications. 12 (1): 5251. Bibcode:2021NatCo..12.5251P. doi:10.1038/s41467-021-25517-3. ISSN 2041-1723. PMC 8413445. PMID 34475392.
Hoffmann, Anke; Ziller, Michael; Spengler, Dietmar (December 2016). "The Future is The Past: Methylation QTLs in Schizophrenia". Genes. 7 (12): 104. doi:10.3390/genes7120104. ISSN 2073-4425. PMC 5192480. PMID 27886132.
Daly, Ann K (2017-10-11). "Pharmacogenetics: a general review on progress to date". British Medical Bulletin. 124 (1): 65–79. doi:10.1093/bmb/ldx035. ISSN 0007-1420. PMID 29040422.
Musci, Rashelle J.; Augustinavicius, Jura L.; Volk, Heather (2019-08-13). "Gene-Environment Interactions in Psychiatry: Recent Evidence and Clinical Implications". Current Psychiatry Reports. 21 (9): 81. doi:10.1007/s11920-019-1065-5. ISSN 1523-3812. PMC 7340157. PMID 31410638.
Giegling I, Hartmann AM, Möller HJ, Rujescu D (November 2006). "Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene". Journal of Affective Disorders. 96 (1–2): 75–81. doi:10.1016/j.jad.2006.05.016. PMID 16814396.
Ezzeddini R, Somi MH, Taghikhani M, Moaddab SY, Masnadi Shirazi K, Shirmohammadi M, Eftekharsadat AT, Sadighi Moghaddam B, Salek Farrokhi A (February 2021). "Association of Foxp3 rs3761548 polymorphism with cytokines concentration in gastric adenocarcinoma patients". Cytokine. 138: 155351. doi:10.1016/j.cyto.2020.155351. ISSN 1043-4666. PMID 33127257. S2CID 226218796.
Kujovich JL (January 2011). "Factor V Leiden thrombophilia". Genetics in Medicine. 13 (1): 1–16. doi:10.1097/GIM.0b013e3181faa0f2. PMID 21116184.
Morita A, Nakayama T, Doba N, Hinohara S, Mizutani T, Soma M (June 2007). "Genotyping of triallelic SNPs using TaqMan PCR". Molecular and Cellular Probes. 21 (3): 171–6. doi:10.1016/j.mcp.2006.10.005. PMID 17161935.
Prodi DA, Drayna D, Forabosco P, Palmas MA, Maestrale GB, Piras D, Pirastu M, Angius A (October 2004). "Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene". Chemical Senses. 29 (8): 697–702. doi:10.1093/chemse/bjh074. PMID 15466815.
Ammitzbøll CG, Kjær TR, Steffensen R, Stengaard-Pedersen K, Nielsen HJ, Thiel S, Bøgsted M, Jensenius JC (28 November 2012). "Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin". PLOS ONE. 7 (11): e50585. Bibcode:2012PLoSO...750585A. doi:10.1371/journal.pone.0050585. PMC 3509001. PMID 23209787.
Guenther, Catherine A.; Tasic, Bosiljka; Luo, Liqun; Bedell, Mary A.; Kingsley, David M. (July 2014). "A molecular basis for classic blond hair color in Europeans". Nature Genetics. 46 (7): 748–752. doi:10.1038/ng.2991. ISSN 1546-1718. PMC 4704868. PMID 24880339.
Ji G, Long Y, Zhou Y, Huang C, Gu A, Wang X (May 2012). "Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility". BMC Medicine. 10: 49. doi:10.1186/1741-7015-10-49. PMC 3378460. PMID 22594646.
Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC (November 2011). "Kaviar: an accessible system for testing SNV novelty". Bioinformatics. 27 (22): 3216–7. doi:10.1093/bioinformatics/btr540. PMC 3208392. PMID 21965822.
Cao R, Shi Y, Chen S, Ma Y, Chen J, Yang J, Chen G, Shi T (January 2017). "dbSAP: single amino-acid polymorphism database for protein variation detection". Nucleic Acids Research. 45 (D1): D827 – D832. doi:10.1093/nar/gkw1096. PMC 5210569. PMID 27903894.
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D (February 2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature. 409 (6822): 928–33. Bibcode:2001Natur.409..928S. doi:10.1038/35057149. PMID 11237013.
den Dunnen JT, Antonarakis SE (2000). "Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion". Human Mutation. 15 (1): 7–12. doi:10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N. PMID 10612815.
Ogino S, Gulley ML, den Dunnen JT, Wilson RB (February 2007). "Standard mutation nomenclature in molecular diagnostics: practical and educational challenges". The Journal of Molecular Diagnostics. 9 (1): 1–6. doi:10.2353/jmoldx.2007.060081. PMC 1867422. PMID 17251329.
Johnson, Andrew D. (October 2009). "SNP bioinformatics: a comprehensive review of resources". Circulation: Cardiovascular Genetics. 2 (5): 530–536. doi:10.1161/CIRCGENETICS.109.872010. ISSN 1942-325X. PMC 2789466. PMID 20031630.
Malhis N, Jones SJ, Gsponer J (April 2019). "Improved measures for evolutionary conservation that exploit taxonomy distances". Nature Communications. 10 (1): 1556. Bibcode:2019NatCo..10.1556M. doi:10.1038/s41467-019-09583-2. PMC 6450959. PMID 30952844.
Nawar Malhis; Matthew Jacobson; Steven J. M. Jones; Jörg Gsponer (2020). "LIST-S2: Taxonomy Based Sorting of Deleterious Missense Mutations Across Species". Nucleic Acids Research. 48 (W1): W154 – W161. doi:10.1093/nar/gkaa288. PMC 7319545. PMID 32352516.
Ofoegbu TC, David A, Kelley LA, Mezulis S, Islam SA, Mersmann SF, et al. (June 2019). "PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants". Journal of Molecular Biology. 431 (13): 2460–2466. doi:10.1016/j.jmb.2019.04.043. PMC 6597944. PMID 31075275.
Ittisoponpisan S, Islam SA, Khanna T, Alhuzimi E, David A, Sternberg MJ (May 2019). "Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?". Journal of Molecular Biology. 431 (11): 2197–2212. doi:10.1016/j.jmb.2019.04.009. PMC 6544567. PMID 30995449.

ncbi.nlm.nih.gov

Auton, Adam; et al. (2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Monga, Isha; Qureshi, Abid; Thakur, Nishant; Gupta, Amit Kumar; Kumar, Manoj (September 2017). "ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy". G3. 7 (9): 2931–2943. doi:10.1534/g3.117.044024. PMC 5592921. PMID 28696921.
Husain, Mohammed Amir; Laurent, Benoit; Plourde, Mélanie (2021-02-17). "APOE and Alzheimer's Disease: From Lipid Transport to Physiopathology and Therapeutics". Frontiers in Neuroscience. 15: 630502. doi:10.3389/fnins.2021.630502. ISSN 1662-453X. PMC 7925634. PMID 33679311.
Goya, R.; Sun, M. G.; Morin, R. D.; Leung, G.; Ha, G.; Wiegand, K. C.; Senz, J.; Crisan, A.; Marra, M. A.; Hirst, M.; Huntsman, D.; Murphy, K. P.; Aparicio, S.; Shah, S. P. (2010). "SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors". Bioinformatics. 26 (6): 730–736. doi:10.1093/bioinformatics/btq040. PMC 2832826. PMID 20130035.
Katsonis, Panagiotis; Koire, Amanda; Wilson, Stephen Joseph; Hsu, Teng-Kuei; Lua, Rhonald C.; Wilkins, Angela Dawn; Lichtarge, Olivier (2014-10-20). "Single nucleotide variations: Biological impact and theoretical interpretation". Protein Science. 23 (12): 1650–1666. doi:10.1002/pro.2552. ISSN 0961-8368. PMC 4253807. PMID 25234433.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (July 15, 2015). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8 (1). Springer Science and Business Media LLC: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Spencer, Paige S.; Barral, José M. (2012). "Genetic code redundancy and its influence on the encoded polypeptides". Computational and Structural Biotechnology Journal. 1: e201204006. doi:10.5936/csbj.201204006. ISSN 2001-0370. PMC 3962081. PMID 24688635.
Chu, Duan; Wei, Lai (2019-04-16). "Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation". BMC Cancer. 19 (1): 359. doi:10.1186/s12885-019-5572-x. ISSN 1471-2407. PMC 6469204. PMID 30991970.
Li G, Pan T, Guo D, Li LC (2014). "Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example". Molecular Biology International. 2014: 967565. doi:10.1155/2014/967565. PMC 4167656. PMID 25276428.
Lu YF, Mauger DM, Goldstein DB, Urban TJ, Weeks KM, Bradrick SS (November 2015). "IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance". Scientific Reports. 5: 16037. Bibcode:2015NatSR...516037L. doi:10.1038/srep16037. PMC 4631997. PMID 26531896.
Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". European Journal of Human Genetics. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
Cordovado SK, Hendrix M, Greene CN, Mochal S, Earley MC, Farrell PM, Kharrazi M, Hannon WH, Mueller PW (February 2012). "CFTR mutation analysis and haplotype associations in CF patients". Molecular Genetics and Metabolism. 105 (2): 249–54. doi:10.1016/j.ymgme.2011.10.013. PMC 3551260. PMID 22137130.
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (October 2015). "A global reference for human genetic variation". Nature. 526 (7571): 68–74. Bibcode:2015Natur.526...68T. doi:10.1038/nature15393. PMC 4750478. PMID 26432245.
Bergström A, McCarthy SA, Hui R, Almarri MA, Ayub Q, Danecek P; et al. (2020). "Insights into human genetic variation and population history from 929 diverse genomes". Science. 367 (6484): eaay5012. doi:10.1126/science.aay5012. PMC 7115999. PMID 32193295.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Zhu Z, Yuan D, Luo D, Lu X, Huang S (2015-07-24). "Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease". PLOS ONE. 10 (7): e0133421. Bibcode:2015PLoSO..1033421Z. doi:10.1371/journal.pone.0133421. PMC 4514478. PMID 26207627.
Hivert, Valentin; Leblois, Raphaël; Petit, Eric J.; Gautier, Mathieu; Vitalis, Renaud (2018-07-30). "Measuring Genetic Differentiation from Pool-seq Data". Genetics. 210 (1): 315–330. doi:10.1534/genetics.118.300900. ISSN 0016-6731. PMC 6116966. PMID 30061425.
Ekblom, R; Galindo, J (2010-12-08). "Applications of next generation sequencing in molecular ecology of non-model organisms". Heredity. 107 (1): 1–15. doi:10.1038/hdy.2010.152. ISSN 0018-067X. PMC 3186121. PMID 21139633.
Dorant, Yann; Benestan, Laura; Rougemont, Quentin; Normandeau, Eric; Boyle, Brian; Rochette, Rémy; Bernatchez, Louis (2019). "Comparing Pool-seq, Rapture, and GBS genotyping for inferring weak population structure: The American lobster (Homarus americanus) as a case study". Ecology and Evolution. 9 (11): 6606–6623. Bibcode:2019EcoEv...9.6606D. doi:10.1002/ece3.5240. ISSN 2045-7758. PMC 6580275. PMID 31236247.
Vendrami, David L. J.; Telesca, Luca; Weigand, Hannah; Weiss, Martina; Fawcett, Katie; Lehman, Katrin; Clark, M. S.; Leese, Florian; McMinn, Carrie; Moore, Heather; Hoffman, Joseph I. (2017). "RAD sequencing resolves fine-scale population structure in a benthic invertebrate: implications for understanding phenotypic plasticity". Royal Society Open Science. 4 (2): 160548. Bibcode:2017RSOS....460548V. doi:10.1098/rsos.160548. PMC 5367306. PMID 28386419.
Zhang K, Qin ZS, Liu JS, Chen T, Waterman MS, Sun F (May 2004). "Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies". Genome Research. 14 (5): 908–16. doi:10.1101/gr.1837404. PMC 479119. PMID 15078859.
Stimson J, Gardy J, Mathema B, Crudu V, Cohen T, Colijn C (25 January 2019). "Beyond the SNP Threshold: Identifying Outbreak Clusters Using Inferred Transmissions". Molecular Biology and Evolution. 36 (3): 587–603. doi:10.1093/molbev/msy242. PMC 6389316. PMID 30690464.
Visscher, Peter M.; Wray, Naomi R.; Zhang, Qian; Sklar, Pamela; McCarthy, Mark I.; Brown, Matthew A.; Yang, Jian (July 2017). "10 Years of GWAS Discovery: Biology, Function, and Translation". The American Journal of Human Genetics. 101 (1): 5–22. doi:10.1016/j.ajhg.2017.06.005. ISSN 0002-9297. PMC 5501872. PMID 28686856.
Dong, Linda M.; Potter, John D.; White, Emily; Ulrich, Cornelia M.; Cardon, Lon R.; Peters, Ulrike (2008-05-28). "Genetic Susceptibility to Cancer". JAMA. 299 (20): 2423–2436. doi:10.1001/jama.299.20.2423. ISSN 0098-7484. PMC 2772197. PMID 18505952.
Wang, Jing; Ma, Xiaoqin; Zhang, Qi; Chen, Yinghui; Wu, Dan; Zhao, Pengjun; Yu, Yu (2021). "The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases". Frontiers in Cell and Developmental Biology. 9: 665514. doi:10.3389/fcell.2021.665514. ISSN 2296-634X. PMC 8143053. PMID 34041244.
Hawe, Johann S.; Wilson, Rory; Schmid, Katharina T.; Zhou, Li; Lakshmanan, Lakshmi Narayanan; Lehne, Benjamin C.; Kühnel, Brigitte; Scott, William R.; Wielscher, Matthias; Yew, Yik Weng; Baumbach, Clemens; Lee, Dominic P.; Marouli, Eirini; Bernard, Manon; Pfeiffer, Liliane (January 2022). "Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function". Nature Genetics. 54 (1): 18–29. doi:10.1038/s41588-021-00969-x. ISSN 1546-1718. PMC 7617265. PMID 34980917. S2CID 256821844.
Perzel Mandell, Kira A.; Eagles, Nicholas J.; Wilton, Richard; Price, Amanda J.; Semick, Stephen A.; Collado-Torres, Leonardo; Ulrich, William S.; Tao, Ran; Han, Shizhong; Szalay, Alexander S.; Hyde, Thomas M.; Kleinman, Joel E.; Weinberger, Daniel R.; Jaffe, Andrew E. (2021-09-02). "Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk". Nature Communications. 12 (1): 5251. Bibcode:2021NatCo..12.5251P. doi:10.1038/s41467-021-25517-3. ISSN 2041-1723. PMC 8413445. PMID 34475392.
Hoffmann, Anke; Ziller, Michael; Spengler, Dietmar (December 2016). "The Future is The Past: Methylation QTLs in Schizophrenia". Genes. 7 (12): 104. doi:10.3390/genes7120104. ISSN 2073-4425. PMC 5192480. PMID 27886132.
Musci, Rashelle J.; Augustinavicius, Jura L.; Volk, Heather (2019-08-13). "Gene-Environment Interactions in Psychiatry: Recent Evidence and Clinical Implications". Current Psychiatry Reports. 21 (9): 81. doi:10.1007/s11920-019-1065-5. ISSN 1523-3812. PMC 7340157. PMID 31410638.
Ammitzbøll CG, Kjær TR, Steffensen R, Stengaard-Pedersen K, Nielsen HJ, Thiel S, Bøgsted M, Jensenius JC (28 November 2012). "Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin". PLOS ONE. 7 (11): e50585. Bibcode:2012PLoSO...750585A. doi:10.1371/journal.pone.0050585. PMC 3509001. PMID 23209787.
Guenther, Catherine A.; Tasic, Bosiljka; Luo, Liqun; Bedell, Mary A.; Kingsley, David M. (July 2014). "A molecular basis for classic blond hair color in Europeans". Nature Genetics. 46 (7): 748–752. doi:10.1038/ng.2991. ISSN 1546-1718. PMC 4704868. PMID 24880339.
Ji G, Long Y, Zhou Y, Huang C, Gu A, Wang X (May 2012). "Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility". BMC Medicine. 10: 49. doi:10.1186/1741-7015-10-49. PMC 3378460. PMID 22594646.
National Center for Biotechnology Information, United States National Library of Medicine. 2014. NCBI dbSNP build 142 for human. "[DBSNP-announce] DBSNP Human Build 142 (GRCh38 and GRCh37.p13)". Archived from the original on 2017-09-10. Retrieved 2017-09-11.
National Center for Biotechnology Information, United States National Library of Medicine. 2015. NCBI dbSNP build 144 for human. Summary Page. "DBSNP Summary". Archived from the original on 2017-09-10. Retrieved 2017-09-11.
Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC (November 2011). "Kaviar: an accessible system for testing SNV novelty". Bioinformatics. 27 (22): 3216–7. doi:10.1093/bioinformatics/btr540. PMC 3208392. PMID 21965822.
Cao R, Shi Y, Chen S, Ma Y, Chen J, Yang J, Chen G, Shi T (January 2017). "dbSAP: single amino-acid polymorphism database for protein variation detection". Nucleic Acids Research. 45 (D1): D827 – D832. doi:10.1093/nar/gkw1096. PMC 5210569. PMID 27903894.
"Clustered RefSNPs (rs) and Other Data Computed in House". SNP FAQ Archive. Bethesda (MD): U.S. National Center for Biotechnology Information. 2005.
Ogino S, Gulley ML, den Dunnen JT, Wilson RB (February 2007). "Standard mutation nomenclature in molecular diagnostics: practical and educational challenges". The Journal of Molecular Diagnostics. 9 (1): 1–6. doi:10.2353/jmoldx.2007.060081. PMC 1867422. PMID 17251329.
Johnson, Andrew D. (October 2009). "SNP bioinformatics: a comprehensive review of resources". Circulation: Cardiovascular Genetics. 2 (5): 530–536. doi:10.1161/CIRCGENETICS.109.872010. ISSN 1942-325X. PMC 2789466. PMID 20031630.
Malhis N, Jones SJ, Gsponer J (April 2019). "Improved measures for evolutionary conservation that exploit taxonomy distances". Nature Communications. 10 (1): 1556. Bibcode:2019NatCo..10.1556M. doi:10.1038/s41467-019-09583-2. PMC 6450959. PMID 30952844.
Nawar Malhis; Matthew Jacobson; Steven J. M. Jones; Jörg Gsponer (2020). "LIST-S2: Taxonomy Based Sorting of Deleterious Missense Mutations Across Species". Nucleic Acids Research. 48 (W1): W154 – W161. doi:10.1093/nar/gkaa288. PMC 7319545. PMID 32352516.
Ofoegbu TC, David A, Kelley LA, Mezulis S, Islam SA, Mersmann SF, et al. (June 2019). "PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants". Journal of Molecular Biology. 431 (13): 2460–2466. doi:10.1016/j.jmb.2019.04.043. PMC 6597944. PMID 31075275.
Ittisoponpisan S, Islam SA, Khanna T, Alhuzimi E, David A, Sternberg MJ (May 2019). "Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?". Journal of Molecular Biology. 431 (11): 2197–2212. doi:10.1016/j.jmb.2019.04.009. PMC 6544567. PMID 30995449.

researchgate.net

Gupta PK, Roy JK, Prasad M (25 February 2001). "Single nucleotide polymorphisms: a new paradigm for molecular marker technology and DNA polymorphism detection with emphasis on their use in plants". Current Science. 80 (4): 524–535. Archived from the original on 13 February 2017.

semanticscholar.org

api.semanticscholar.org

Sherry, S. T.; Ward, M.; Sirotkin, K. (1999). "dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation". Genome Research. 9 (8): 677–679. doi:10.1101/gr.9.8.677. PMID 10447503. S2CID 10775908.
Wright, Alan F (September 23, 2005), "Genetic Variation: Polymorphisms and Mutations", eLS, Wiley, doi:10.1038/npg.els.0005005, ISBN 9780470016176, S2CID 82415195
Khurana, Ekta; Fu, Yao; Chakravarty, Dimple; Demichelis, Francesca; Rubin, Mark A.; Gerstein, Mark (2016-01-19). "Role of non-coding sequence variants in cancer". Nature Reviews Genetics. 17 (2): 93–108. doi:10.1038/nrg.2015.17. ISSN 1471-0056. PMID 26781813. S2CID 14433306.
Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (January 2007). "A "silent" polymorphism in the MDR1 gene changes substrate specificity". Science. 315 (5811): 525–8. Bibcode:2007Sci...315..525K. doi:10.1126/science.1135308. PMID 17185560. S2CID 15146955.
Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L (March 2008). "Natural selection has driven population differentiation in modern humans". Nature Genetics. 40 (3): 340–5. doi:10.1038/ng.78. PMID 18246066. S2CID 205357396.
Alkuraya, Fowzan S. (April 2010). "Homozygosity mapping: One more tool in the clinical geneticist's toolbox". Genetics in Medicine. 12 (4): 236–239. doi:10.1097/gim.0b013e3181ceb95d. ISSN 1098-3600. PMID 20134328. S2CID 10789932.
Vohra, Manik; Sharma, Anu Radha; Prabhu B, Navya; Rai, Padmalatha S. (2020). "SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review". Public Health Genomics. 23 (5–6): 155–170. doi:10.1159/000510253. ISSN 1662-4246. PMID 32966991. S2CID 221886624.
Hawe, Johann S.; Wilson, Rory; Schmid, Katharina T.; Zhou, Li; Lakshmanan, Lakshmi Narayanan; Lehne, Benjamin C.; Kühnel, Brigitte; Scott, William R.; Wielscher, Matthias; Yew, Yik Weng; Baumbach, Clemens; Lee, Dominic P.; Marouli, Eirini; Bernard, Manon; Pfeiffer, Liliane (January 2022). "Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function". Nature Genetics. 54 (1): 18–29. doi:10.1038/s41588-021-00969-x. ISSN 1546-1718. PMC 7617265. PMID 34980917. S2CID 256821844.
Ezzeddini R, Somi MH, Taghikhani M, Moaddab SY, Masnadi Shirazi K, Shirmohammadi M, Eftekharsadat AT, Sadighi Moghaddam B, Salek Farrokhi A (February 2021). "Association of Foxp3 rs3761548 polymorphism with cytokines concentration in gastric adenocarcinoma patients". Cytokine. 138: 155351. doi:10.1016/j.cyto.2020.155351. ISSN 1043-4666. PMID 33127257. S2CID 226218796.

web.archive.org

"single-nucleotide polymorphism / SNP | Learn Science at Scitable". www.nature.com. Archived from the original on 2015-11-10. Retrieved 2015-11-13.
Gupta PK, Roy JK, Prasad M (25 February 2001). "Single nucleotide polymorphisms: a new paradigm for molecular marker technology and DNA polymorphism detection with emphasis on their use in plants". Current Science. 80 (4): 524–535. Archived from the original on 13 February 2017.
Carlson, Bruce (15 June 2008). "SNPs — A Shortcut to Personalized Medicine". Genetic Engineering & Biotechnology News. 28 (12). Mary Ann Liebert, Inc. Archived from the original on 26 December 2010. Retrieved 2008-07-06. (subtitle) Medical applications are where the market's growth is expected
National Center for Biotechnology Information, United States National Library of Medicine. 2014. NCBI dbSNP build 142 for human. "[DBSNP-announce] DBSNP Human Build 142 (GRCh38 and GRCh37.p13)". Archived from the original on 2017-09-10. Retrieved 2017-09-11.
National Center for Biotechnology Information, United States National Library of Medicine. 2015. NCBI dbSNP build 144 for human. Summary Page. "DBSNP Summary". Archived from the original on 2017-09-10. Retrieved 2017-09-11.
J.T. Den Dunnen (2008-02-20). "Recommendations for the description of sequence variants". Human Genome Variation Society. Archived from the original on 2008-09-14. Retrieved 2008-09-05.
"View of SNPViz - Visualization of SNPs in proteins". genomicscomputbiol.org. doi:10.18547/gcb.2018.vol4.iss1.e100048. Archived from the original on 2020-08-07. Retrieved 2018-10-20.

worldcat.org

search.worldcat.org

Calippe, Bertrand; Guillonneau, Xavier; Sennlaub, Florian (March 2014). "Complement factor H and related proteins in age-related macular degeneration". Comptes Rendus Biologies. 337 (3): 178–184. doi:10.1016/j.crvi.2013.12.003. ISSN 1631-0691. PMID 24702844.
Husain, Mohammed Amir; Laurent, Benoit; Plourde, Mélanie (2021-02-17). "APOE and Alzheimer's Disease: From Lipid Transport to Physiopathology and Therapeutics". Frontiers in Neuroscience. 15: 630502. doi:10.3389/fnins.2021.630502. ISSN 1662-453X. PMC 7925634. PMID 33679311.
Katsonis, Panagiotis; Koire, Amanda; Wilson, Stephen Joseph; Hsu, Teng-Kuei; Lua, Rhonald C.; Wilkins, Angela Dawn; Lichtarge, Olivier (2014-10-20). "Single nucleotide variations: Biological impact and theoretical interpretation". Protein Science. 23 (12): 1650–1666. doi:10.1002/pro.2552. ISSN 0961-8368. PMC 4253807. PMID 25234433.
Khurana, Ekta; Fu, Yao; Chakravarty, Dimple; Demichelis, Francesca; Rubin, Mark A.; Gerstein, Mark (2016-01-19). "Role of non-coding sequence variants in cancer". Nature Reviews Genetics. 17 (2): 93–108. doi:10.1038/nrg.2015.17. ISSN 1471-0056. PMID 26781813. S2CID 14433306.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (July 15, 2015). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8 (1). Springer Science and Business Media LLC: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Spencer, Paige S.; Barral, José M. (2012). "Genetic code redundancy and its influence on the encoded polypeptides". Computational and Structural Biotechnology Journal. 1: e201204006. doi:10.5936/csbj.201204006. ISSN 2001-0370. PMC 3962081. PMID 24688635.
Chu, Duan; Wei, Lai (2019-04-16). "Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation". BMC Cancer. 19 (1): 359. doi:10.1186/s12885-019-5572-x. ISSN 1471-2407. PMC 6469204. PMID 30991970.
Hivert, Valentin; Leblois, Raphaël; Petit, Eric J.; Gautier, Mathieu; Vitalis, Renaud (2018-07-30). "Measuring Genetic Differentiation from Pool-seq Data". Genetics. 210 (1): 315–330. doi:10.1534/genetics.118.300900. ISSN 0016-6731. PMC 6116966. PMID 30061425.
Ekblom, R; Galindo, J (2010-12-08). "Applications of next generation sequencing in molecular ecology of non-model organisms". Heredity. 107 (1): 1–15. doi:10.1038/hdy.2010.152. ISSN 0018-067X. PMC 3186121. PMID 21139633.
Ellegren, Hans (January 2014). "Genome sequencing and population genomics in non-model organisms". Trends in Ecology & Evolution. 29 (1): 51–63. Bibcode:2014TEcoE..29...51E. doi:10.1016/j.tree.2013.09.008. ISSN 0169-5347. PMID 24139972.
Dorant, Yann; Benestan, Laura; Rougemont, Quentin; Normandeau, Eric; Boyle, Brian; Rochette, Rémy; Bernatchez, Louis (2019). "Comparing Pool-seq, Rapture, and GBS genotyping for inferring weak population structure: The American lobster (Homarus americanus) as a case study". Ecology and Evolution. 9 (11): 6606–6623. Bibcode:2019EcoEv...9.6606D. doi:10.1002/ece3.5240. ISSN 2045-7758. PMC 6580275. PMID 31236247.
Visscher, Peter M.; Wray, Naomi R.; Zhang, Qian; Sklar, Pamela; McCarthy, Mark I.; Brown, Matthew A.; Yang, Jian (July 2017). "10 Years of GWAS Discovery: Biology, Function, and Translation". The American Journal of Human Genetics. 101 (1): 5–22. doi:10.1016/j.ajhg.2017.06.005. ISSN 0002-9297. PMC 5501872. PMID 28686856.
Dong, Linda M.; Potter, John D.; White, Emily; Ulrich, Cornelia M.; Cardon, Lon R.; Peters, Ulrike (2008-05-28). "Genetic Susceptibility to Cancer". JAMA. 299 (20): 2423–2436. doi:10.1001/jama.299.20.2423. ISSN 0098-7484. PMC 2772197. PMID 18505952.
Alkuraya, Fowzan S. (April 2010). "Homozygosity mapping: One more tool in the clinical geneticist's toolbox". Genetics in Medicine. 12 (4): 236–239. doi:10.1097/gim.0b013e3181ceb95d. ISSN 1098-3600. PMID 20134328. S2CID 10789932.
Vohra, Manik; Sharma, Anu Radha; Prabhu B, Navya; Rai, Padmalatha S. (2020). "SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review". Public Health Genomics. 23 (5–6): 155–170. doi:10.1159/000510253. ISSN 1662-4246. PMID 32966991. S2CID 221886624.
Wang, Jing; Ma, Xiaoqin; Zhang, Qi; Chen, Yinghui; Wu, Dan; Zhao, Pengjun; Yu, Yu (2021). "The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases". Frontiers in Cell and Developmental Biology. 9: 665514. doi:10.3389/fcell.2021.665514. ISSN 2296-634X. PMC 8143053. PMID 34041244.
Hawe, Johann S.; Wilson, Rory; Schmid, Katharina T.; Zhou, Li; Lakshmanan, Lakshmi Narayanan; Lehne, Benjamin C.; Kühnel, Brigitte; Scott, William R.; Wielscher, Matthias; Yew, Yik Weng; Baumbach, Clemens; Lee, Dominic P.; Marouli, Eirini; Bernard, Manon; Pfeiffer, Liliane (January 2022). "Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function". Nature Genetics. 54 (1): 18–29. doi:10.1038/s41588-021-00969-x. ISSN 1546-1718. PMC 7617265. PMID 34980917. S2CID 256821844.
Perzel Mandell, Kira A.; Eagles, Nicholas J.; Wilton, Richard; Price, Amanda J.; Semick, Stephen A.; Collado-Torres, Leonardo; Ulrich, William S.; Tao, Ran; Han, Shizhong; Szalay, Alexander S.; Hyde, Thomas M.; Kleinman, Joel E.; Weinberger, Daniel R.; Jaffe, Andrew E. (2021-09-02). "Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk". Nature Communications. 12 (1): 5251. Bibcode:2021NatCo..12.5251P. doi:10.1038/s41467-021-25517-3. ISSN 2041-1723. PMC 8413445. PMID 34475392.
Hoffmann, Anke; Ziller, Michael; Spengler, Dietmar (December 2016). "The Future is The Past: Methylation QTLs in Schizophrenia". Genes. 7 (12): 104. doi:10.3390/genes7120104. ISSN 2073-4425. PMC 5192480. PMID 27886132.
Daly, Ann K (2017-10-11). "Pharmacogenetics: a general review on progress to date". British Medical Bulletin. 124 (1): 65–79. doi:10.1093/bmb/ldx035. ISSN 0007-1420. PMID 29040422.
Musci, Rashelle J.; Augustinavicius, Jura L.; Volk, Heather (2019-08-13). "Gene-Environment Interactions in Psychiatry: Recent Evidence and Clinical Implications". Current Psychiatry Reports. 21 (9): 81. doi:10.1007/s11920-019-1065-5. ISSN 1523-3812. PMC 7340157. PMID 31410638.
Ezzeddini R, Somi MH, Taghikhani M, Moaddab SY, Masnadi Shirazi K, Shirmohammadi M, Eftekharsadat AT, Sadighi Moghaddam B, Salek Farrokhi A (February 2021). "Association of Foxp3 rs3761548 polymorphism with cytokines concentration in gastric adenocarcinoma patients". Cytokine. 138: 155351. doi:10.1016/j.cyto.2020.155351. ISSN 1043-4666. PMID 33127257. S2CID 226218796.
Guenther, Catherine A.; Tasic, Bosiljka; Luo, Liqun; Bedell, Mary A.; Kingsley, David M. (July 2014). "A molecular basis for classic blond hair color in Europeans". Nature Genetics. 46 (7): 748–752. doi:10.1038/ng.2991. ISSN 1546-1718. PMC 4704868. PMID 24880339.
Johnson, Andrew D. (October 2009). "SNP bioinformatics: a comprehensive review of resources". Circulation: Cardiovascular Genetics. 2 (5): 530–536. doi:10.1161/CIRCGENETICS.109.872010. ISSN 1942-325X. PMC 2789466. PMID 20031630.

zenodo.org

Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (January 2007). "A "silent" polymorphism in the MDR1 gene changes substrate specificity". Science. 315 (5811): 525–8. Bibcode:2007Sci...315..525K. doi:10.1126/science.1135308. PMID 17185560. S2CID 15146955.