Integrating common and rare genetic variation in diverse human populations

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

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336

A haplotype map of the human genome

The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858

A second generation human haplotype map of over 3.1 million SNPs

The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377

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

The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970

Positive Natural Selection in the Human Lineage

Sabeti, P. C., Schaffner, S. F., Fry, B., Lohmueller, J., Varilly, P., Shamovsky, O., Palma, A., Mikkelsen, T. S., Altshuler, D., & Lander, E. S. (2006) · Science · doi:10.1126/science.1124309 · Cited by 1,157

SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans

Lamason, R. L., Mohideen, M.-A. P. K., Mest, J. R., Wong, A. C., Norton, H. L., Aros, M. C., Jurynec, M. J., Mao, X., Humphreville, V. R., Humbert, J. E., et al. (2005) · Science · doi:10.1126/science.1116238 · Cited by 1,043

Genome‐wide association studies of multiple sclerosis

Cotsapas, C., & Mitrovic, M. (2018) · Clinical & Translational Immunology · doi:10.1002/cti2.1018 · Cited by 89

Common risk variants identified in autism spectrum disorder

Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., et al. (2017) · doi:10.1101/224774 · Cited by 89

Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms

Greminger, M. P., Stölting, K. N., Nater, A., Goossens, B., Arora, N., Bruggmann, R., Patrignani, A., Nussberger, B., Sharma, R., Kraus, R. H., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-16 · Cited by 91

Discovery of Protein–lncRNA Interactions by Integrating Large-Scale CLIP-Seq and RNA-Seq Datasets

Li, J., Liu, S., Zheng, L., Wu, J., Sun, W., Wang, Z., Zhou, H., Qu, L., & Yang, J. (2015) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2014.00088 · Cited by 91

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

D’Aurizio, R., Pippucci, T., Tattini, L., Giusti, B., Pellegrini, M., & Magi, A. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw695 · Cited by 90

Genotype Calling from Population-Genomic Sequencing Data

Maruki, T., & Lynch, M. (2017) · G3 Genes Genomes Genetics · doi:10.1534/g3.117.039008 · Cited by 94

Common single nucleotide variants underlying drug addiction: more than a decade of research

Bühler, K., Giné, E., Echeverry‐Alzate, V., Calleja‐Conde, J., de Fonseca, F. R., & López‐Moreno, J. A. (2015) · Addiction Biology · doi:10.1111/adb.12204 · Cited by 96

Patterns of Admixture and Population Structure in Native Populations of Northwest North America

Verdu, P., Pemberton, T. J., Laurent, R., Kemp, B. M., González‐Oliver, A., Gorodezky, C., Hughes, C. E., Shattuck, M. R., Petzelt, B., Mitchell, J., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004530 · Cited by 93

Whole-Genome Sequencing of the World’s Oldest People

Gierman, H. J., Fortney, K., Roach, J. C., Coles, N. S., Li, H., Glusman, G., Markov, G. J., Smith, J., Hood, L., Coles, L. S., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0112430 · Cited by 88

An imputation platform to enhance integration of rice genetic resources

Wang, D., Agosto-Perez, F., Chebotarov, D., Shi, Y., Marchini, J., Fitzgerald, M. A., McNally, K. L., Alexandrov, N. N., & McCouch, S. R. (2018) · Nature Communications · doi:10.1038/s41467-018-05538-1 · Cited by 90

Advancing Pharmacogenomics Education in the Core PharmD Curriculum through Student Personal Genomic Testing

Adams, S. M., Anderson, K. B., Coons, J. C., Smith, R. B., Meyer, S. M., Parker, L. S., & Empey, P. E. (2016) · American Journal of Pharmaceutical Education · doi:10.5688/ajpe8013 · Cited by 88

Genome-wide detection of natural selection in African Americans pre- and post-admixturePreprint

Jin, W., Xu, S., Wang, H., Yu, Y., Shen, Y., Wu, B.-L., & Li, J. (2011) · Genome Research · doi:10.1101/gr.124784.111 · Cited by 91

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

The Myocardial Infarction Genetics Consortium, Shea, J., Agarwala, V., Philippakis, A. A., Maguire, J., Banks, E., DePristo, M., Thomson, B., Guiducci, C., Onofrio, R. C., et al. (2011) · Nature Genetics · doi:10.1038/ng.871 · Cited by 87

Genome-scale neurogenetics: methodology and meaning

McCarroll, S. A., Feng, G., & Hyman, S. E. (2014) · Nature Neuroscience · doi:10.1038/nn.3716 · Cited by 89

In search of low-frequency and rare variants affecting complex traits

Panoutsopoulou, K., Tachmazidou, I., & Zeggini, E. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt376 · Cited by 90

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

Sikora, M., Carpenter, M. L., Moreno‐Estrada, A., Henn, B. M., Underhill, P. A., Sánchez‐Quinto, F., Zara, I., Pitzalis, M., Sidore, C., Busonero, F., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004353 · Cited by 90

Using genetic variation to disentangle the complex relationship between food intake and health outcomes

Pirastu, N., McDonnell, C. M., Grzeszkowiak, E. J., Mounier, N., Imamura, F., Merino, J., Day, F. R., Zheng, J., Taba, N., Concas, M. P., et al. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010162 · Cited by 87

Dynamic Epstein–Barr Virus Gene Expression on the Path to B-Cell Transformation

Price, A. M., & Luftig, M. A. (2014) · Advances in virus research · doi:10.1016/b978-0-12-800098-4.00006-4 · Cited by 93

Widespread Allelic Heterogeneity in Complex Traits

Hormozdiari, F., Zhu, A., Kichaev, G., Ju, C. J. ‐., Segrè, A. V., Joo, J. W. J., Won, H., Sankararaman, S., Paşaniuc, B., Shifman, S., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.005 · Cited by 90

Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array

Hou, Y., Bickhart, D. M., Hvinden, M. L., Li, C., Song, J., Boichard, D., Fritz, S., Eggen, A. A., DeNise, S. K., Wiggans, G. R., et al. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-376 · Cited by 86

Perspectives on Human Population Structure at the Cusp of the Sequencing Era

Novembre, J., & Ramachandran, S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090810-183123 · Cited by 88

The Global Genome Biodiversity Network (GGBN) Data Standard specification

Droege, G., Barker, K. B., Seberg, O., Coddington, J. A., Benson, E. E., Berendsohn, W. G., Bunk, B., Butler, C. R., Cawsey, E. M., Deck, J., et al. (2016) · Database · doi:10.1093/database/baw125 · Cited by 86

Differential methylation of enhancer at IGF2 is associated with abnormal dopamine synthesis in major psychosis

Pai, S., Li, P., Killinger, B. A., Marshall, L. L., Jia, P., Liao, J., Petronis, A., Szabó, P. E., & Labrie, V. (2019) · Nature Communications · doi:10.1038/s41467-019-09786-7 · Cited by 86

The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections

Jaeger, M., van der Lee, R., Cheng, S., Johnson, M. D., Kumar, V., Ng, A., Plantinga, T. S., Smeekens, S. P., Oosting, M., Wang, X., et al. (2015) · European Journal of Clinical Microbiology & Infectious Diseases · doi:10.1007/s10096-014-2309-2 · Cited by 88

Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants

Gundry, M. C., & Vijg, J. (2011) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2011.10.001 · Cited by 86

DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation

Gusev, A., Kenny, E. E., Lowe, J. K., Salit, J., Saxena, R., Kathiresan, S., Altshuler, D., Friedman, J. M., Breslow, J. L., & Pe’er, I. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.023 · Cited by 88

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia

Forstner, A. J., Hecker, J., Hofmann, A., Maaser, A., Reinbold, C. S., Mühleisen, T. W., Leber, M., Strohmaier, J., Degenhardt, F., Treutlein, J., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0171595 · Cited by 90

The construction of cross-population polygenic risk scores using transfer learning

Zhao, Z., Fritsche, L. G., Smith, J. A., Mukherjee, B., & Lee, S. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.09.010 · Cited by 85

Common genetic variants in the PSCA gene influence gene expression and bladder cancer risk

Fu, Y., Kohaar, I., Rothman, N., Earl, J., Figueroa, J. D., Ye, Y., Malats, N., Tang, W., Liu, L., García‐Closas, M., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1202189109 · Cited by 86

Genome-wide Comparison of African-Ancestry Populations from CARe and Other Cohorts Reveals Signals of Natural Selection

Bhatia, G., Patterson, N. J., Paşaniuc, B., Zaitlen, N., Genovese, G., Pollack, S. J., Mallick, S., Myers, S., Tandon, A., Spencer, C. C. A., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.07.025 · Cited by 88

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans

Schick, U. M., Jain, D., Hodonsky, C. J., Morrison, J., Davis, J. P., Brown, L., Sofer, T., Conomos, M. P., Schurmann, C., McHugh, C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.003 · Cited by 87

The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects

Peyrot, W. J., Lee, S. H., Milaneschi, Y., Abdellaoui, A., Byrne, E. M., Esko, T., de Geus, E. J. C., Hemani, G., Hottenga, J. J., Kloiber, S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.50 · Cited by 84

Towards an understanding of the role of p53 in adrenocortical carcinogenesis

Wasserman, J. D., Zambetti, G. P., & Malkin, D. (2012) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.09.010 · Cited by 84

ARID1A and TERT promoter mutations in dedifferentiated meningioma

Abedalthagafi, M., Bi, W. L., Merrill, P. H., Gibson, W. J., Rose, M. F., Du, Z., Francis, J. M., Du, R., Dunn, I. F., Ligon, A. H., et al. (2015) · Cancer Genetics · doi:10.1016/j.cancergen.2015.03.005 · Cited by 84

The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share

Kottyan, L. C., Zoller, E. E., Bene, J., Lu, X., Kelly, J. A., Rupert, A., Lessard, C. J., Vaughn, S. E., Marion, M. C., Weirauch, M. T., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu455 · Cited by 84

Mixture deconvolution by massively parallel sequencing of microhaplotypes

Bennett, L., Oldoni, F., Long, K., Cisana, S., Madella, K., Wootton, S., Chang, J., Hasegawa, R., Lagace, R. E., Kídd, K. K., et al. (2019) · International Journal of Legal Medicine · doi:10.1007/s00414-019-02010-7 · Cited by 84

Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders

Bizzotto, S., & Walsh, C. A. (2022) · Nature reviews. Neuroscience · doi:10.1038/s41583-022-00572-x · Cited by 87

Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes

Ayub, Q., Moutsianas, L., Chen, Y., Panoutsopoulou, K., Colonna, V., Pagani, L., Prokopenko, I., Ritchie, G. R. S., Tyler‐Smith, C., McCarthy, M. I., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.12.010 · Cited by 88

“Why Do We Have to Learn This Stuff?”—A New Genetics for 21st Century Students

Redfield, R. J. (2012) · PLoS Biology · doi:10.1371/journal.pbio.1001356 · Cited by 84

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Meynert, A. M., Bicknell, L. S., Hurles, M. E., Jackson, A. P., & Taylor, M. S. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-195 · Cited by 87

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Takayama, J., Tadaka, S., Yano, K., Katsuoka, F., Gocho, C., Funayama, T., Makino, S., Okamura, Y., Kikuchi, A., Sugimoto, S., et al. (2021) · Nature Communications · doi:10.1038/s41467-020-20146-8 · Cited by 83

Gene-Based Testing of Interactions in Association Studies of Quantitative Traits

Ma, L., Clark, A. G., & Keinan, A. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003321 · Cited by 86

Detecting and Characterizing Genomic Signatures of Positive Selection in Global Populations

Liu, X., Ong, R. T., Pillai, N. E., Elzein, A., Small, K. S., Clark, T. G., Kwiatkowski, D. P., & Teo, Y.-Y. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.021 · Cited by 86

Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression

Li, M. J., Yan, B., Sham, P. C., & Wang, J. (2014) · Briefings in Bioinformatics · doi:10.1093/bib/bbu018 · Cited by 89

Evidence for the role of EP HX2 gene variants in anorexia nervosa

Zeeland, A. A. S., Bloss, C. S., Tewhey, R., Bansal, V., Torkamani, A., Libiger, O., Duvvuri, V., Wineinger, N. E., Galvez, L., Darst, B. F., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.91 · Cited by 85

FORGe: prioritizing variants for graph genomes

Pritt, J., Chen, N.-C., & Langmead, B. (2018) · Genome biology · doi:10.1186/s13059-018-1595-x · Cited by 84

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Dewan, R., Chia, R., Ding, J., Hickman, R. A., Stein, T. D., Abramzon, Y. A., Ahmed, S., Sabir, M. S., Portley, M. K., Tucci, A., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.11.005 · Cited by 95

l -Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy

Soto, D., Olivella, M., Grau, C., Armstrong, J., Alcon, C., Gasull, X., Santos‐Gómez, A., Locubiche, S., de Salazar, M. G., García-Díaz, R., et al. (2019) · Science Signaling · doi:10.1126/scisignal.aaw0936 · Cited by 86

CHRNA5 Risk Variant Predicts Delayed Smoking Cessation and Earlier Lung Cancer Diagnosis—A Meta-Analysis

Chen, L., Hung, R. J., Baker, T. B., Horton, A. C., Culverhouse, R., Saccone, N. L., Cheng, I. C., Deng, B., Han, Y., Hansen, H. M., et al. (2015) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djv100 · Cited by 85

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

Lyon, G. J., & Wang, K. (2012) · Genome Medicine · doi:10.1186/gm359 · Cited by 82

False discovery rate control in genome-wide association studies with population structure

Sesia, M., Bates, S., Candès, E. J., Marchini, J., & Sabatti, C. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2105841118 · Cited by 82

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project

Mu, X. J., Lu, Z. J., Kong, Y., Lam, H. Y. K., & Gerstein, M. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr342 · Cited by 84

A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood

Zhao, J., Akinsheye, I., Arafat, D., Cradick, T. J., Lee, C. M., Banskota, S., Marigorta, U. M., Bao, G., & Gibson, G. C. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.023 · Cited by 83

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

Colonna, V., Ayub, Q., Chen, Y., Pagani, L., Luisi, P., Pybus, M., Garrison, E. P., Xue, Y., & Tyler‐Smith, C. (2014) · Genome biology · doi:10.1186/gb-2014-15-6-r88 · Cited by 87

The genomic landscape of African populations in health and disease

Rotimi, C. N., Bentley, A. R., Doumatey, A. P., Chen, G., Shriner, D., & Adeyemo, A. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx253 · Cited by 83

Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia

Mathieson, I., Munafo, M. R., & Flint, J. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.41 · Cited by 81

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations

Kumar, S., Dudley, J. T., Filipski, A., & Liu, L. (2011) · Trends in Genetics · doi:10.1016/j.tig.2011.06.004 · Cited by 81

Exploring the Distribution of Genetic Markers of Pharmacogenomics Relevance in Brazilian and Mexican Populations

Bonifaz-Peña, V., Contreras, A. V., Struchiner, C. J., Roela, R. A., Furuya, T. K., Chammas, R. J., Rangel‐Escareño, C., Uribe-Figueroa, L., Gómez-Vázquez, M. J., McLeod, H. L., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0112640 · Cited by 81

North African Populations Carry the Signature of Admixture with Neandertals

Sánchez‐Quinto, F., Botigué, L. R., Civit, S., Arenas, C., Ávila‐Arcos, M. C., Bustamante, C. D., Comas, D., & Lalueza‐Fox, C. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047765 · Cited by 86

Genetic diversity in India and the inference of Eurasian population expansion

Xing, J., Watkins, W. S., Hu, Y., Huff, C. D., Sabo, A., Muzny, D. M., Bamshad, M. J., Gibbs, R. A., Jorde, L. B., & Yu, F. (2010) · Genome biology · doi:10.1186/gb-2010-11-11-r113 · Cited by 81

Adaptations to local environments in modern human populations

Jeong, C., & Di Rienzo, A. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.06.011 · Cited by 80

A high-resolution copy-number variation resource for clinical and population genetics

Uddin, M. J., Thiruvahindrapuram, B., Walker, S., Wang, Z., Hu, P., Lamoureux, S., Wei, J., MacDonald, J. R., Pellecchia, G., Lu, C., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.178 · Cited by 80

Determining Effects of Non-synonymous SNPs on Protein-Protein Interactions using Supervised and Semi-supervised Learning

Zhao, N., Han, J. G., Shyu, C., & Korkin, D. (2014) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1003592 · Cited by 81

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

Horikoshi, M., Mägi, R., van de Bunt, M., Surakka, I. L., Sarin, A., Mahajan, A., Marullo, L., Þorleifsson, G., Hägg, S., Hottenga, J., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005230 · Cited by 81

AGXT2: a promiscuous aminotransferase

Rodionov, R. N., Jarzebska, N., Weiss, N., & Lentz, S. R. (2014) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2014.09.005 · Cited by 79

Neutral genomic regions refine models of recent rapid human population growth

Gazave, É., Ma, L., Chang, D., Coventry, A., Gao, F., Muzny, D. M., Boerwinkle, E., Gibbs, R. A., Sing, C. F., Clark, A. G., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1310398110 · Cited by 80

Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer

Tang, W., Fu, Y., Figueroa, J. D., Malats, N., García‐Closas, M., Chatterjee, N., Kogevinas, M., Baris, D., Thun, M. J., Hall, J. L., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/ddr619 · Cited by 79

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research

Chaitankar, V., Karakülah, G., Ratnapriya, R., Giuste, F., Brooks, M. J., & Swaroop, A. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2016.06.001 · Cited by 86

Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

Nolte, I. M., van der Most, P. J., Alizadeh, B. Z., de Bakker, P. I. W., Boezen, H. M., Bruinenberg, M., Franke, L., van der Harst, P., Navis, G. J., Postma, D. S., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.50 · Cited by 83

Examining the role of common variants in rare neurodevelopmental conditions

Huang, Q. Q., Wigdor, E. M., Malawsky, D. S., Campbell, P. H., Samocha, K. E., Chundru, V. K., Danecek, P., Lindsay, S., Marchant, T., Koko, M., et al. (2024) · Nature · doi:10.1038/s41586-024-08217-y · Cited by 86

Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke

Williams, S. R., Yang, Q., Fang, C., Liu, X., Keene, K. L., Jacques, P. F., Chen, W., Weinstein, G., Hsu, F., Beiser, A., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004214 · Cited by 78

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Swaminathan, G. J., Bragin, E., Chatzimichali, E., Corpas, M., Bevan, A. P., Wright, C. F., Carter, N. P., Hurles, M. E., & Firth, H. V. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds362 · Cited by 79

Limited Evidence for Classic Selective Sweeps in African Populations

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Association between fetal exposure to phthalate endocrine disruptor and genome-wide DNA methylation at birth

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