References analysis of the Wikipedia article "Exome sequencing" in the English version

doi.org

Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Monga I, Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM (Feb 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nat Commun. 13 (1): 800. Bibcode:2022NatCo..13..800E. doi:10.1038/s41467-022-28343-3. PMC 8831607. PMID 35145093.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J (10 September 2009). "Targeted capture and massively parallel sequencing of 12 human exomes". Nature. 461 (7261): 272–276. Bibcode:2009Natur.461..272N. doi:10.1038/nature08250. PMC 2844771. PMID 19684571.

Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad (2010). "Exome sequencing identifies the cause of a mendelian disorder". Nature Genetics. 42 (1): 30–35. doi:10.1038/ng.499. PMC 2847889. PMID 19915526.

Wang, D. G.; Fan, J. B.; Siao, C. J.; Berno, A.; Young, P.; Sapolsky, R.; Ghandour, G.; Perkins, N.; Winchester, E. (1998-05-15). "Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome". Science. 280 (5366): 1077–1082. Bibcode:1998Sci...280.1077W. doi:10.1126/science.280.5366.1077. ISSN 0036-8075. PMID 9582121.

Petersen, Britt-Sabina; Fredrich, Broder; Hoeppner, Marc P.; Ellinghaus, David; Franke, Andre (2017-02-14). "Opportunities and challenges of whole-genome and -exome sequencing". BMC Genetics. 18 (1): 14. doi:10.1186/s12863-017-0479-5. ISSN 1471-2156. PMC 5307692. PMID 28193154.

Botstein, David; Risch, Neil (March 2003). "Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease". Nature Genetics. 33 (3): 228–237. doi:10.1038/ng1090. ISSN 1546-1718. PMID 12610532. S2CID 10599219.

Rauch, A; Hoyer, J; Guth, S; Zweier, C; Kraus, C; Becker, C; Zenker, M; Hüffmeier, U; Thiel, C; Rüschendorf, F; Nürnberg, P; Reis, A; Trautmann, U (Oct 1, 2006). "Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation". American Journal of Medical Genetics Part A. 140 (19): 2063–74. doi:10.1002/ajmg.a.31416. PMID 16917849. S2CID 24570999.

Stavros Basiardes; Rose Veile; Cindy Helms; Elaine R. Mardis; Anne M. Bowcock; Michael Lovett (2005). "Direct Genomic Selection". Nature Methods. 1 (2): 63–69. doi:10.1038/nmeth0105-63. PMID 16152676. S2CID 667227.

Teer, J. K.; Mullikin, J. C. (12 August 2010). "Exome sequencing: the sweet spot before whole genomes". Human Molecular Genetics. 19 (R2): R145–R151. doi:10.1093/hmg/ddq333. PMC 2953745. PMID 20705737.

Emily H. Turner; Sarah B. Ng; Deborah A. Nickerson; Jay Shendure (2009). "Methods for Genomic Partitioning". Annu Rev Genom Hum Genet. 10 (1): 30–35. doi:10.1146/annurev-genom-082908-150112. PMID 19630561.

Mertes F, Elsharawy A, Sauer S, van Helvoort JM, van der Zaag PJ, Franke A, Nilsson M, Lehrach H, Brookes AJ (2011). "Targeted enrichment of genomic DNA regions for next-generation sequencing". Brief. Funct. Genomics. 10 (6): 374–386. doi:10.1093/bfgp/elr033. PMC 3245553. PMID 22121152. Archived from the original (PDF) on 2017-09-21. Retrieved 2018-10-24.

Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP (10 November 2009). "Genetic diagnosis by whole exome capture and massively parallel DNA sequencing". Proc Natl Acad Sci U S A. 106 (45): 19096–19101. Bibcode:2009PNAS..10619096C. doi:10.1073/pnas.0910672106. PMC 2768590. PMID 19861545.

Kahvejian A, Quackenbush J, Thompson JF (2008). "What would you do if you could sequence everything?". Nature Biotechnology. 26 (10): 1125–1133. doi:10.1038/nbt1494. PMC 4153598. PMID 18846086.

Lira Mamanova; Coffey, Alison J; Scott, Carol E; Kozarewa, Iwanka; Turner, Emily H; Kumar, Akash; Howard, Eleanor; Shendure, Jay; Turner, Daniel J; et al. (February 2010). "Target-enrichment strategies for nextgeneration sequencing". Nature Methods. 7 (2): 111–118. doi:10.1038/nmeth.1419. PMID 20111037. S2CID 21410733.

Biesecker LG (Jan 2010). "Exome sequencing makes medical genomics a reality". Nat. Genet. 42 (1): 13–14. doi:10.1038/ng0110-13. PMID 20037612.

Schwarze, K; Buchanan, J; Taylor, JC; Wordsworth, S (May 2018). "Are whole Exome and whole Genome Sequencing Approaches Cost-Effective? A Systematic Review of the Literature". Value in Health. 21: S100. doi:10.1016/j.jval.2018.04.677. ISSN 1098-3015.

Lee, Seunggeung; Abecasis, Goncalo R.; Boehnke, Michael; Lin, Xihong (July 2014). "Rare-Variant Association Analysis: Study Designs and Statistical Tests". The American Journal of Human Genetics. 95 (1): 5–23. doi:10.1016/j.ajhg.2014.06.009. PMC 4085641. PMID 24995866.

Wang, Quanli; Dhindsa, Ryan S.; Carss, Keren; Harper, Andrew R.; et al. (23 September 2021). "Rare variant contribution to human disease in 281,104 UK Biobank exomes". Nature. 597 (7877): 527–532. Bibcode:2021Natur.597..527W. doi:10.1038/s41586-021-03855-y. PMC 8458098. PMID 34375979.

Li, Xihao; Li, Zilin; Zhou, Hufeng; Gaynor, Sheila M.; et al. (September 2020). "Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale". Nature Genetics. 52 (9): 969–983. doi:10.1038/s41588-020-0676-4. PMC 7483769. PMID 32839606.

"STAARpipeline: an all-in-one rare-variant tool for biobank-scale whole-genome sequencing data". Nature Methods. 19 (12): 1532–1533. December 2022. doi:10.1038/s41592-022-01641-w. PMID 36316564. S2CID 253246835.

Li, Xihao; Quick, Corbin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; Chen, Han; Selvaraj, Margaret Sunitha; Sun, Ryan; Dey, Rounak; Arnett, Donna K.; Bielak, Lawrence F.; Bis, Joshua C.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Brody, Jennifer A.; Cade, Brian E.; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry I.; Göring, Harald H. H.; Guo, Xiuqing; Haessler, Jeffrey; Kalyani, Rita R.; Kooperberg, Charles; Kral, Brian G.; Lange, Leslie A.; Manichaikul, Ani; Martin, Lisa W.; McGarvey, Stephen T.; Mitchell, Braxton D.; Montasser, May E.; Morrison, Alanna C.; Naseri, Take; O'Connell, Jeffrey R.; Palmer, Nicholette D.; Peyser, Patricia A.; Psaty, Bruce M.; Raffield, Laura M.; Redline, Susan; Reiner, Alexander P.; Reupena, Muagututi'a Sefuiva; Rice, Kenneth M.; Rich, Stephen S.; Sitlani, Colleen M.; Smith, Jennifer A.; Taylor, Kent D.; Vasan, Ramachandran S.; Willer, Cristen J.; Wilson, James G.; Yanek, Lisa R.; Zhao, Wei; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter, Jerome I.; Natarajan, Pradeep; Peloso, Gina M.; Li, Zilin; Lin, Xihong (January 2023). "Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies". Nature Genetics. 55 (1): 154–164. doi:10.1038/s41588-022-01225-6. PMC 10084891. PMID 36564505. S2CID 255084231.

Weijun Luo; Chaolin Zhang; Yong-hui Jiang; Cory R. Brouwer (2018). "Systematic reconstruction of autism biology from massive genetic mutation profiles". Science Advances. 4 (4): e1701799. Bibcode:2018SciA....4.1799L. doi:10.1126/sciadv.1701799. PMC 5895441. PMID 29651456.

Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M (9 September 2010). "Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations". Nature. 467 (7312): 207–210. Bibcode:2010Natur.467..207B. doi:10.1038/nature09327. PMC 3129007. PMID 20729831.

Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP (Mar 2011). "Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease". Genet. Med. 13 (3): 255–262. doi:10.1097/GIM.0b013e3182088158. PMID 21173700.

Raffan E, Hurst LA, Turki SA, Carpenter G, Scott C, Daly A, Coffey A, Bhaskar S, Howard E, Khan N, Kingston H, Palotie A, Savage DB, O'Driscoll M, Smith C, O'Rahilly S, Barroso I, Semple RK (2011). "Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient". Front Endocrinol (Lausanne). 2 (8): 8. doi:10.3389/fendo.2011.00008. PMC 3356119. PMID 22654791.

Warr, A.; Robert, C.; Hume, D.; Archibald, A.; Deeb, N.; Watson, M. (2 July 2015). "Exome Sequencing: Current and Future Perspectives". G3. 5 (8): 1543–1550. doi:10.1534/g3.115.018564. PMC 4528311. PMID 26139844.

harvard.edu

ui.adsabs.harvard.edu

le.ac.uk

lra.le.ac.uk

nih.gov

pubmed.ncbi.nlm.nih.gov

Kahvejian A, Quackenbush J, Thompson JF (2008). "What would you do if you could sequence everything?". Nature Biotechnology. 26 (10): 1125–1133. doi:10.1038/nbt1494. PMC 4153598. PMID 18846086.

Biesecker LG (Jan 2010). "Exome sequencing makes medical genomics a reality". Nat. Genet. 42 (1): 13–14. doi:10.1038/ng0110-13. PMID 20037612.

ncbi.nlm.nih.gov

Kahvejian A, Quackenbush J, Thompson JF (2008). "What would you do if you could sequence everything?". Nature Biotechnology. 26 (10): 1125–1133. doi:10.1038/nbt1494. PMC 4153598. PMID 18846086.

semanticscholar.org

api.semanticscholar.org

web.archive.org

"Ultimate Exome Promotion". BGI Americas. 18 October 2013. Archived from the original on 10 November 2013. Retrieved 17 November 2013.

"Genos - Own your DNA, Learn about Yourself, Drive Research". www.genosresearch.com. Archived from the original on 2016-08-25. Retrieved 2016-10-18.

Exome sequencing (English Wikipedia)

bgiamericas.com

bio-itworld.com

doi.org

forbes.com

genomes2people.org

genomeweb.com

genomicslawreport.com

genosresearch.com

harvard.edu

ui.adsabs.harvard.edu

le.ac.uk

lra.le.ac.uk

nature.com

nih.gov

pubmed.ncbi.nlm.nih.gov

ncbi.nlm.nih.gov

semanticscholar.org

api.semanticscholar.org

web.archive.org

worldcat.org

search.worldcat.org