A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works

A Greedy Algorithm for Aligning DNA Sequences

Zhang, Z., Schwartz, S., Wagner, L., & Miller, W. (2000) · Journal of Computational Biology · doi:10.1089/10665270050081478 · Cited by 5,459 · see citing works

The Future of Genetic Studies of Complex Human Diseases

Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · see citing works

EVOLUTIONARY RELATIONSHIP OF DNA SEQUENCES IN FINITE POPULATIONS

Tajima, F. (1983) · Genetics · doi:10.1093/genetics/105.2.437 · Cited by 3,133 · see citing works

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

Wang, D. G., Fan, J., Siao, C.-J., Berno, A. J., Young, P. R., Sapolsky, R., Ghandour, G., Perkins, N., Winchester, E., Spencer, J. B., et al. (1998) · Science · doi:10.1126/science.280.5366.1077 · Cited by 2,162 · see citing works

Linkage disequilibrium in the human genome

Reich, D., Cargill, M., Gabriel, S., Ireland, J. S., Sabeti, P. C., Richter, D. J., Lavery, T., Kouyoumjian, R., Farhadian, S., Ward, R. H., et al. (2001) · Nature · doi:10.1038/35075590 · Cited by 1,763 · see citing works

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416 · see citing works

The New Genomics: Global Views of Biology

Lander, E. S. (1996) · Science · doi:10.1126/science.274.5287.536 · Cited by 1,174 · see citing works

Oxford Surveys in Evolutionary Biology

Allendorf, F. W., Dawkins, R., & Ridley, M. (1989) · Evolution · doi:10.2307/2409372 · Cited by 1,084 · see citing works

Variations on a Theme: Cataloging Human DNA Sequence Variation

Collins, F. S., Guyer, M. S., & Chakravarti, A. (1997) · Science · doi:10.1126/science.278.5343.1580 · Cited by 1,062 · see citing works

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

Halushka, M. K., Fan, J., Bentley, K., Hsie, L., Shen, N., Weder, A. B., Cooper, R., Lipshutz, R. J., & Chakravarti, A. (1999) · Nature Genetics · doi:10.1038/10297 · Cited by 1,011 · see citing works

An SNP map of the human genome generated by reduced representation shotgun sequencing

Altshuler, D., Pollara, V. J., Cowles, C. R., Etten, W. J. V., Baldwin, J., Linton, L., & Lander, E. S. (2000) · Nature · doi:10.1038/35035083 · Cited by 725 · see citing works

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography.Preprint

Underhill, P., Jin, L., Lin, A. A., Mehdi, S., Jenkins, T., Vollrath, D., Davis, R. W., Cavalli-sforza, L., & Oefner, P. (1997) · Genome Research · doi:10.1101/gr.7.10.996 · Cited by 684 · see citing works

Mutations of the human E-cadherin (CDH1) gene

Berx, G., Becker, K., Höfler, H., & Roy, F. M. V. (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)12:4 · Cited by 602 · see citing works

A general approach to single-nucleotide polymorphism discovery

Marth, G., Korf, I. F., Yandell, M. D., Yeh, R. T., Gu, Z., Zakeri, H., Stitziel, N. O., Hillier, L., Kwok, P., & Gish, W. R. (1999) · Nature Genetics · doi:10.1038/70570 · Cited by 573 · see citing works

Sequence variation in the human angiotensin converting enzyme

Rieder, M., Taylor, S. L., Clark, A., & Nickerson, D. (1999) · Nature Genetics · doi:10.1038/8760 · Cited by 502 · see citing works

Low nucleotide diversity in man.

Li, W. H., & Sadler, L. A. (1991) · Genetics · doi:10.1093/genetics/129.2.513 · Cited by 501 · see citing works

Failure of adipocyte differentiation causes type II diabetes mellitus?

Danforth, E. (2000) · Nature Genetics · doi:10.1038/79111 · Cited by 487 · see citing works

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene

Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengård, J., Salomaa, V. V., Vartiainen, E. A., Boerwinkle, E., & Sing, C. F. (1998) · Nature Genetics · doi:10.1038/907 · Cited by 475 · see citing works

Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism

Fullerton, S. M., Clark, A. G., Weiss, K. M., Nickerson, D. A., Taylor, S. L., Stengård, J., Salomaa, V. V., Vartiainen, E. A., Perola, M., Boerwinkle, E., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303070 · Cited by 429 · see citing works

Linkage disequilibrium and the search for complex disease genes.Preprint

Jorde, L. (2000) · Genome Research · doi:10.1101/gr.144500 · Cited by 422 · see citing works

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

Lindblad‐Toh, K., Winchester, E., Daly, M. J., Wang, D. G., Hirschhorn, J. N., Laviolette, J., Ardlie, K., Reich, D., Robinson, E. A., Sklar, P. B., et al. (2000) · Nature Genetics · doi:10.1038/74215 · Cited by 414 · see citing works

Oxford Surveys in Evolutionary Biology

Loxdale, H. D., Harvey, P., & Partridge, L. (1991) · Journal of Animal Ecology · doi:10.2307/5468 · Cited by 361 · see citing works

Mining SNPs From EST DatabasesPreprint

Picoult-Newberg, L., Ideker, T. E., Pohl, M., Taylor, S. L., Donaldson, M. A., Nickerson, D. A., & Boyce-Jacino, M. T. (1999) · Genome Research · doi:10.1101/gr.9.2.167 · Cited by 332 · see citing works

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

Cooke, H. J., Brown, W. R., & Rappold, G. (1985) · Nature · doi:10.1038/317687a0 · Cited by 283 · see citing works

Genetic epidemiology of single-nucleotide polymorphisms

Collins, A. R., Lonjou, C., & Morton, N. E. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.26.15173 · Cited by 277 · see citing works

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

Taillon‐Miller, P., Bauer-Sardiña, I., Saccone, N. L., Putzel, J., Laitinen, T., Cao, A., Kere, J., Pilia, G., Rice, J. P., & Kwok, P. (2000) · Nature Genetics · doi:10.1038/77100 · Cited by 253 · see citing works

Genetic evidence for a Paleolithic human population expansion in Africa

Reich, D. E., & Goldstein, D. B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.14.8119 · Cited by 244 · see citing works

Reliable identification of large numbers of candidate SNPs from public EST data

Buetow, K. H., Edmonson, M. N., & Cassidy, A. B. (1999) · Nature Genetics · doi:10.1038/6851 · Cited by 241 · see citing works

Introducing RefSeq and LocusLink: curated human genome resources at the NCBI

Pruitt, K. D., Katz, K., Sicotte, H., & Maglott, D. R. (2000) · Trends in Genetics · doi:10.1016/s0168-9525(99)01882-x · Cited by 241 · see citing works

Signatures of Population Expansion in Microsatellite Repeat Data

Kimmel, M., Chakraborty, R., King, J. P., Bamshad, M. J., Watkins, W. S., & Jorde, L. B. (1998) · Genetics · doi:10.1093/genetics/148.4.1921 · Cited by 236 · see citing works

DNA Variability and Recombination Rates at X-Linked Loci in Humans

Nachman, M. W., Bauer, V. L., Crowell, S. L., & Aquadro, C. F. (1998) · Genetics · doi:10.1093/genetics/150.3.1133 · Cited by 202 · see citing works

Population genetic implications from sequence variation in four Y chromosome genes

Shen, P., Wang, F., Underhill, P. A., Franco, C., Yang, W.-H., Roxas, A., Sung, R. K., Lin, A. A., Hyman, R. W., Vollrath, D., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.13.7354 · Cited by 194 · see citing works

The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes

Eaves, I. A., Merriman, T. R., Barber, R. A., Nutland, S. L., Tuomilehto‐Wolf, E., Tuomilehto, J., Cucca, F., & Todd, J. A. (2000) · Nature Genetics · doi:10.1038/77091 · Cited by 192 · see citing works

Single-nucleotide polymorphisms in the public domain: how useful are they?

Marth, G., Yeh, R. T., Minton, M. R., Donaldson, R., Li, Q., Duan, S., Davenport, R., Miller, R. D., & Kwok, P. (2001) · Nature Genetics · doi:10.1038/86864 · Cited by 164 · see citing works

An SNP map of human chromosome 22

Mullikin, J. C., Hunt, S. E., Cole, C. G., Mortimore, B., Rice, C. M., Burton, J., Matthews, L. H., Pavitt, R., Plumb, R. W., Sims, S. K., et al. (2000) · Nature · doi:10.1038/35035089 · Cited by 151 · see citing works

Sequence Diversity in 36 Candidate Genes for Cardiovascular Disorders

Cambien, F., Poirier, O., Nicaud, V., Herrmann, S.-M., Mallet, C., Ricard, S., Behague, I., Hallet, V., Blanc, H., Loukaci, V., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302448 · Cited by 144 · see citing works

Erratum: A DNA polymorphism discovery resource for research on human genetic variation (Genome Research (1998) 8 (1229-1231))

Collins, F. S., Li, H., & Chakravarti, A. (1999) · Genome Research · Cited by 137 · see citing works

Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences

Irizarry, K., Kustanovich, V., Li, C., Brown, N. B., Nelson, S. F., Wong, W. H., & Lee, C. J. (2000) · Nature Genetics · doi:10.1038/79981 · Cited by 134 · see citing works

Cladistic Structure Within the HumanLipoprotein LipaseGene and Its Implications for Phenotypic Association Studies

Templeton, A. R., Weiss, K. M., Nickerson, D. A., Boerwinkle, E., & Sing, C. F. (2000) · Genetics · doi:10.1093/genetics/156.3.1259 · Cited by 91 · see citing works

Unexpectedly similar rates of nucleotide substitution found in male and female hominids

Bohossian, H. B., Skaletsky, H., & Page, D. (2000) · Nature · doi:10.1038/35020557 · Cited by 90 · see citing works

Large-scale sequence comparisons reveal unusually high levels of variation in the HLA-DQB1 locus in the class II region of the human MHC

Horton, R., Niblett, D., Milne, S., et al. (1998) · Journal of Molecular Biology · doi:10.1006/jmbi.1998.2018 · Cited by 55 · see citing works

Of needles and haystacks: finding human disease genes by positional cloning.

Collins, F. (1991) · PubMed · Cited by 37 · see citing works

Regions of Low Single-Nucleotide Polymorphism Incidence in Human and Orangutan Xq: Deserts and Recent Coalescences

Miller, R. D., Taillon‐Miller, P., & Kwok, P. (2001) · Genomics · doi:10.1006/geno.2000.6417 · Cited by 33 · see citing works

Correction: Characterization of single-nucleotide polymorphisms in coding regions of human genes

Cargill, M. (1999) · Nature Genetics · doi:10.1038/15564 · Cited by 8 · see citing works

Sampling SNPs

Yang, Z.-Y., Wong, G. K., Eberle, M. A., et al. (2000) · Nature Genetics · doi:10.1038/79113 · Cited by 5 · see citing works

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works

The Human Genome Browser at UCSC

Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877 · see citing works

The International HapMap Project

†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works

The Structure of Haplotype Blocks in the Human Genome

Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863 · see citing works

Gut microbiome modulates response to anti-PD-1 immunotherapy in melanoma patients

Gopalakrishnan, V., Spencer, C. N., Nezi, L., Reuben, A., Andrews, M. C., Karpinets, T. V., Prieto, P. A., Vicente, D., Hoffman, K., Wei, S. C., et al. (2018) · Science · doi:10.1126/science.aan4236 · Cited by 4,812 · see citing works

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684 · see citing works

Integrating common and rare genetic variation in diverse human populations

The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026 · see citing works

Environment dominates over host genetics in shaping human gut microbiota

Rothschild, D., Weissbrod, O., Barkan, E., Kurilshikov, A., Korem, T., Zeevi, D., Costea, P. I., Godneva, A., Kalka, I. N., Bar, N., et al. (2018) · Nature · doi:10.1038/nature25973 · Cited by 2,859 · see citing works

Genome sequence, comparative analysis and haplotype structure of the domestic dog

members, B. S. P., Lindblad-Toh, K., Wade, C. M., Mikkelsen, T. S., Karlsson, E. K., Jaffe, D. B., Kamal, M., Clamp, M., Chang, J. L., Kulbokas, E. J., et al. (2005) · Nature · doi:10.1038/nature04338 · Cited by 2,568 · see citing works

Initial sequence of the chimpanzee genome and comparison with the human genome

The Chimpanzee Sequencing and Analysis Consortium (2005) · Nature · doi:10.1038/nature04072 · Cited by 2,459 · see citing works

Listening to silence and understanding nonsense: exonic mutations that affect splicing

Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209 · see citing works

A vision for the future of genomics research

Collins, F. S., Green, E. D., Guttmacher, A. E., Guyer, M. S., & on behalf of the US National Human Genome Research Institute (2003) · Nature · doi:10.1038/nature01626 · Cited by 1,752 · see citing works

High-resolution haplotype structure in the human genome

Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., & Lander, E. S. (2001) · Nature Genetics · doi:10.1038/ng1001-229 · Cited by 1,717 · see citing works

A comprehensive review of genetic association studies

Hirschhorn, J. N., Lohmueller, K., Byrne, E., & Hirschhorn, K. (2002) · Genetics in Medicine · doi:10.1097/00125817-200203000-00002 · Cited by 1,674 · see citing works

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503 · see citing works

Genetic Mapping in Human Disease

Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

Skol, A. D., Scott, L. J., Abecasis, G. R., & Boehnke, M. (2006) · Nature Genetics · doi:10.1038/ng1706 · Cited by 1,286 · see citing works

Mapping and sequencing of structural variation from eight human genomes

Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works

Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21

Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M., Hacker, C. R., Kautzer, C. R., Lee, D. H., Marjoribanks, C., McDonough, D. P., et al. (2001) · Science · doi:10.1126/science.1065573 · Cited by 1,145 · see citing works

The Genetic Architecture of Quantitative Traits

Mackay, T. F. C. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.090633 · Cited by 1,106 · see citing works

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature · doi:10.1038/nature03440 · Cited by 1,129 · see citing works

Candidate-gene approaches for studying complex genetic traits: practical considerations

Tabor, H. K., Risch, N. J., & Myers, R. M. (2002) · Nature Reviews Genetics · doi:10.1038/nrg796 · Cited by 1,076 · see citing works

Initial impact of the sequencing of the human genome

Lander, E. S. (2011) · Nature · doi:10.1038/nature09792 · Cited by 1,044 · see citing works

Genotype Imputation

Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990 · see citing works

SSAHA: A Fast Search Method for Large DNA Databases

Ning, Z., Cox, A. J., & Mullikin, J. C. (2001) · Genome Research · doi:10.1101/gr.194201 · Cited by 965 · see citing works

SNP detection for massively parallel whole-genome resequencing

Li, R., Li, Y., Fang, X., Yang, H., Wang, J., Kristiansen, K., & Wang, J. (2009) · Genome Research · doi:10.1101/gr.088013.108 · Cited by 944 · see citing works

A HapMap harvest of insights into the genetics of common disease

Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889 · see citing works

The Genetics of Major Depression

Flint, J., & Kendler, K. S. (2014) · Neuron · doi:10.1016/j.neuron.2014.01.027 · Cited by 724 · see citing works

An initial map of insertion and deletion (INDEL) variation in the human genome

Mills, R. E., Luttig, C. T., Larkins, C. E., Beauchamp, A., Tsui, C., Pittard, W. S., & Devine, S. E. (2006) · Genome Research · doi:10.1101/gr.4565806 · Cited by 673 · see citing works

Calibrating a coalescent simulation of human genome sequence variation

Schaffner, S. F., Foo, C., Gabriel, S., Reich, D., Daly, M. J., & Altshuler, D. (2005) · Genome Research · doi:10.1101/gr.3709305 · Cited by 616 · see citing works

Progressive disruption of cellular protein folding in models of polyglutamine diseases

Gidalevitz, T., Ben-Zvi, A., Ho, K. H., Brignull, H. R., & Morimoto, R. I. (2006) · Science · doi:10.1126/science.1124514 · Cited by 643 · see citing works

Microdroplet-based PCR enrichment for large-scale targeted sequencing

Tewhey, R., Warner, J. B., Nakano, M., Libby, B., Medkova, M., David, P. H., Kotsopoulos, S. K., Samuels, M. L., Hutchison, J. B., Larson, J. W., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1583 · Cited by 454 · see citing works

Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

Reich, D., Nalls, M. A., Kao, W. H. L., Akylbekova, E. L., Tandon, A., Patterson, N., Mullikin, J., Hsueh, W.-C., Cheng, C.-Y., Coresh, J., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000360 · Cited by 423 · see citing works

SNP discovery via 454 transcriptome sequencing

Barbazuk, W. B., Emrich, S. J., Chen, H. D., Li, L., & Schnable, P. S. (2007) · The Plant Journal · doi:10.1111/j.1365-313x.2007.03193.x · Cited by 405 · see citing works

Definition And Clinical Importance Of Haplotypes.

Crawford, D. C., & Nickerson, D. A. (2005) · Annual Review of Medicine · doi:10.1146/annurev.med.56.082103.104540 · Cited by 344 · see citing works

Going beyond SNPs: the role of structural genomic variants in adaptive evolution and species diversification

Wellenreuther, M., Mérot, C., Berdan, E., & Bernatchez, L. (2019) · Molecular Ecology · doi:10.1111/mec.15066 · Cited by 291 · see citing works

Genetic susceptibility to adverse drug reactions

Pirmohamed, M., & Park, B. K. (2001) · Trends in Pharmacological Sciences · doi:10.1016/s0165-6147(00)01717-x · Cited by 328 · see citing works

A Genomewide Association Study of Skin Pigmentation in a South Asian Population

Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works

Coccidioidomycosis: host response and vaccine development

Cox, R. A., & Magee, D. M. (2004) · Clinical Microbiology Reviews · doi:10.1128/cmr.17.4.804-839.2004 · Cited by 205 · see citing works

What would you do if you could sequence everything?

Kahvejian, A., Quackenbush, J., & Thompson, J. F. (2008) · Nature Biotechnology · doi:10.1038/nbt1494 · Cited by 189 · see citing works

Once and Again—Issues Surrounding Replication in Genetic Association Studies

Hirschhorn, J. N., & Altshuler, D. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021329 · Cited by 181 · see citing works

Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies

CHORLEY, B., WANG, X., CAMPBELL, M., PITTMAN, G., NOUREDDINE, M., & BELL, D. (2008) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2008.05.001 · Cited by 177 · see citing works

Predicting the Effect of Mutations on Protein-Protein Binding Interactions through Structure-Based Interface Profiles

Brender, J. R., & Zhang, Y. (2015) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004494 · Cited by 140 · see citing works

Prospects for inferring pairwise relationships with single nucleotide polymorphisms

Glaubitz, J. C., Rhodes, O. E., & Dewoody, J. A. (2003) · Molecular Ecology · doi:10.1046/j.1365-294x.2003.01790.x · Cited by 136 · see citing works

Genetic approaches to stature, pubertal timing, and other complex traits

Palmert, M. R., & Hirschhorn, J. N. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00107-0 · Cited by 135 · see citing works

Prediction of eye and skin color in diverse populations using seven SNPs

Spichenok, O., Budimlija, Z. M., Mitchell, A. A., Jenny, A., Kovacevic, L., Marjanovic, D., Caragine, T., Prinz, M., & Wurmbach, E. (2011) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2010.10.005 · Cited by 121 · see citing works

Biased clustered substitutions in the human genome: The footprints of male-driven biased gene conversion

Dreszer, T. R., Wall, G. D., Haussler, D., & Pollard, K. S. (2007) · Genome Research · doi:10.1101/gr.6395807 · Cited by 112 · see citing works

New insights into nutrition and cognitive neuroscience: Symposium on ‘Early nutrition and later disease: current concepts, research and implications’

Dauncey, M. J. (2009) · Proceedings of The Nutrition Society · doi:10.1017/s0029665109990188 · Cited by 107 · see citing works

Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans

Tang, H., Jorgenson, E., Gadde, M., Kardia, S. L. R., Rao, D. C., Zhu, X., Schork, N. J., Hanis, C. L., & Risch, N. (2006) · Human Genetics · doi:10.1007/s00439-006-0175-4 · Cited by 87 · see citing works

Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient

Rahmioglu, N., Morris, A., Nyholt, D., Montgomery, G., Becker, C., Missmer, S., & Zondervan, K. (2016) · Seminars in Reproductive Medicine · doi:10.1055/s-0036-1585408 · Cited by 84 · see citing works

The Genetics of Major Depression

Flint, J., & Kendler, K. S. (2014) · Neuron · doi:10.1016/j.neuron.2014.02.033 · Cited by 81 · see citing works

Evolution of a Length Polymorphism in the Human PER3 Gene, a Component of the Circadian System

Nadkarni, N. A., Weale, M. E., von Schantz, M., & Thomas, M. G. (2005) · Journal of Biological Rhythms · doi:10.1177/0748730405281332 · Cited by 76 · see citing works

Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies

Musumeci, L., Arthur, J. W., Cheung, F. S. G., Hoque, A., Lippman, S., & Reichardt, J. K. V. (2010) · Human Mutation · doi:10.1002/humu.21137 · Cited by 62 · see citing works

Light whole genome sequence for SNP discovery across domestic cat breeds

Mullikin, J. C., Hansen, N. F., Shen, L., Ebling, H., Donahue, W. F., Tao, W., Saranga, D. J., Brand, A., Rubenfield, M. J., Young, A. C., et al. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-406 · Cited by 56 · see citing works

Mirror, mirror on the wall: which microbiomes will help heal them all?

Nayak, R. R., & Turnbaugh, P. J. (2016) · BMC Medicine · doi:10.1186/s12916-016-0622-6 · Cited by 36 · see citing works

Identification of Quantitative Trait Loci Underlying Proteome Variation in Human Lymphoblastoid Cells

Garge, N., Pan, H., Rowland, M. D., Cargile, B. J., Zhang, X., Cooley, P. C., Page, G. P., & Bunger, M. K. (2010) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m900378-mcp200 · Cited by 36 · see citing works

TNXB locus may be a candidate gene predisposing to schizophrenia

Wei, J., & Hemmings, G. P. (2004) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20093 · Cited by 29 · see citing works

Genetic Analysis of Multiple Sclerosis in Europeans

Barcellos, L. F., & Thomson, G. (2003) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2003.08.004 · Cited by 25 · see citing works

BM-SNP: A Bayesian Model for SNP Calling Using High Throughput Sequencing Data

Xu, Y., Zheng, X., Yuan, Y., et al. (2014) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2014.2321407 · Cited by 3 · see citing works

A Novel Method Providing Exact SNP IDs from Sequences

Cheng, Y., Yang, C., Chang, H., et al. (2007) · International MultiConference of Engineers and Computer Scientists

Multiplexed SNP Genotyping Using Allele-Specific Primer Extension on Microarrays

Saharinen, J., Ellonen, P., Saarela, J., et al. (2007) · doi:10.4324/9780203967331-12

Single-nucleotide polymorphisms in the public domain: how useful are they?

Marth, G., Yeh, R. T., Minton, M. R., Donaldson, R., Li, Q., Duan, S., Davenport, R., Miller, R. D., & Kwok, P. (2001) · Nature Genetics · doi:10.1038/86864 · Cited by 164 · see citing works

SNPHunter

Niu, T. (2007) · Methods in molecular biology · doi:10.1007/978-1-59745-515-2_23