Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L. (2008). "Natural selection has driven population differentiation in modern humans.". Nature Genetics40: 340–345. PMID18246066. doi:10.1038/ng.78.
M.A. Varela and W. Amos (2010). "Heterogeneous distribution of SNPs in the human genome: Microsatellites as predictors of nucleotide diversity and divergence". Genomics95: 151–159. PMID20026267. doi:10.1016/j.ygeno.2009.12.003.
Sachidanandam, Ravi; Weissman, David; Schmidt, Steven C.; Kakol, Jerzy M.; Stein, Lincoln D.; Marth, Gabor; Sherry, Steve; Mullikin, James C.; Mortimore, Beverley J. (2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature409 (6822): 928–33. PMID11237013. doi:10.1038/35057149.
Fareed, M., Afzal, M "Single nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service". Egyptian Journal of Medical Human Genetics 2012 http://dx.doi.org/10.1016/j.ejmhg.2012.08.001.
Morita, Akihiko; Nakayama, Tomohiro; Doba, Nobutaka; Hinohara, Shigeaki; Mizutani, Tomohiko; Soma, Masayoshi (2007). "Genotyping of triallelic SNPs using TaqMan PCR". Molecular and Cellular Probes21 (3): 171–6. PMID17161935. doi:10.1016/j.mcp.2006.10.005.
Prodi, D.A.; Drayna, D; Forabosco, P; Palmas, MA; Maestrale, GB; Piras, D; Pirastu, M; Angius, A (2004). "Bitter Taste Study in a Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivity to the TAS2R38 Bitter Receptor Gene". Chemical Senses29 (8): 697–702. PMID15466815. doi:10.1093/chemse/bjh074.
Altshuler, D; Pollara, V J; Cowles, C R; Van Etten, W J; Baldwin, J; Linton, L; Lander, E S (2000). "An SNP map of the human genome generated by reduced representation shotgun sequencing". Nature407 (6803): 513–6. PMID11029002. doi:10.1038/35035083.
Drabovich, A.P.; Krylov, S.N. (2006). "Identification of base pairs in single-nucleotide polymorphisms by MutS protein-mediated capillary electrophoresis". Analytical chemistry78 (6): 2035–8. PMID16536443. doi:10.1021/ac0520386.
Griffin, T J; Smith, L M (2000). "Genetic identification by mass spectrometric analysis of single-nucleotide polymorphisms: ternary encoding of genotypes". Analytical chemistry72 (14): 3298–302. PMID10939403. doi:10.1021/ac991390e.
Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L. (2008). "Natural selection has driven population differentiation in modern humans.". Nature Genetics40: 340–345. PMID18246066. doi:10.1038/ng.78.
M.A. Varela and W. Amos (2010). "Heterogeneous distribution of SNPs in the human genome: Microsatellites as predictors of nucleotide diversity and divergence". Genomics95: 151–159. PMID20026267. doi:10.1016/j.ygeno.2009.12.003.
Wolf, A. B.; Caselli, R. J.; Reiman, E. M.; Valla, J. (2012). "APOE and neuroenergetics: An emerging paradigm in Alzheimer's disease". Neurobiology of Aging. doi:10.1016/j.neurobiolaging.2012.10.011. PMID 23159550.
Sachidanandam, Ravi; Weissman, David; Schmidt, Steven C.; Kakol, Jerzy M.; Stein, Lincoln D.; Marth, Gabor; Sherry, Steve; Mullikin, James C.; Mortimore, Beverley J. (2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature409 (6822): 928–33. PMID11237013. doi:10.1038/35057149.
Ingram, V. M. (1956). "A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin". Nature 178 (4537): 792–794. PMID 13369537.
Chang, J. C.; Kan, Y. W. (1979). "Beta 0 thalassemia, a nonsense mutation in man". Proceedings of the National Academy of Sciences of the United States of America 76 (6): 2886–2889. PMC 383714. PMID 88735.
Hamosh, A.; King, T. M.; Rosenstein, B. J.; Corey, M.; Levison, H.; Durie, P.; Tsui, L. C.; McIntosh, I. et al. (1992). "Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus". American journal of human genetics 51 (2): 245–250. PMC 1682672. PMID 1379413.
Goldstein, J. A. (2001). "Clinical relevance of genetic polymorphisms in the human CYP2C subfamily". British journal of clinical pharmacology 52 (4): 349–355. doi:10.1046/j.0306-5251.2001.01499.x. PMC 2014584. PMID 11678778.
Lee, C. R. (2004). "CYP2C9 genotype as a predictor of drug disposition in humans". Methods and findings in experimental and clinical pharmacology 26 (6): 463–472. PMID 15349140.
Yanase, K.; Tsukahara, S.; Mitsuhashi, J.; Sugimoto, Y. (2006). "Functional SNPs of the breast cancer resistance protein ‐ therapeutic effects and inhibitor development". Cancer Letters 234 (1): 73–80. doi:10.1016/j.canlet.2005.04.039. PMID 16303243.
Thomas, P. E.; Klinger, R.; Furlong, L. I.; Hofmann-Apitius, M.; Friedrich, C. M. (2011). "Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers". BMC Bioinformatics 12: S4. doi:10.1186/1471-2105-12-S4-S4. PMC 3194196. PMID 21992066.
Morita, Akihiko; Nakayama, Tomohiro; Doba, Nobutaka; Hinohara, Shigeaki; Mizutani, Tomohiko; Soma, Masayoshi (2007). "Genotyping of triallelic SNPs using TaqMan PCR". Molecular and Cellular Probes21 (3): 171–6. PMID17161935. doi:10.1016/j.mcp.2006.10.005.
Prodi, D.A.; Drayna, D; Forabosco, P; Palmas, MA; Maestrale, GB; Piras, D; Pirastu, M; Angius, A (2004). "Bitter Taste Study in a Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivity to the TAS2R38 Bitter Receptor Gene". Chemical Senses29 (8): 697–702. PMID15466815. doi:10.1093/chemse/bjh074.
Sachidanandam, R.; Weissman, D.; Schmidt, S. C.; Kakol, J. M.; Stein, L. D.; Marth, G.; Sherry, S.; Mullikin, J. C. et al. (2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature 409 (6822): 928–933. doi:10.1038/35057149. PMID 11237013.
Altshuler, D; Pollara, V J; Cowles, C R; Van Etten, W J; Baldwin, J; Linton, L; Lander, E S (2000). "An SNP map of the human genome generated by reduced representation shotgun sequencing". Nature407 (6803): 513–6. PMID11029002. doi:10.1038/35035083.
Drabovich, A.P.; Krylov, S.N. (2006). "Identification of base pairs in single-nucleotide polymorphisms by MutS protein-mediated capillary electrophoresis". Analytical chemistry78 (6): 2035–8. PMID16536443. doi:10.1021/ac0520386.
Griffin, T J; Smith, L M (2000). "Genetic identification by mass spectrometric analysis of single-nucleotide polymorphisms: ternary encoding of genotypes". Analytical chemistry72 (14): 3298–302. PMID10939403. doi:10.1021/ac991390e.