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

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Gutierrez-Arcelus, M., Lappalainen, T., Montgomery, S. B., Buil, A., Ongen, H., Yurovsky, A., Bryois, J., Giger, T., Romano, L., Planchon, A., et al. (2013) · eLife · doi:10.7554/elife.00523 · Cited by 440

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

Klambauer, G., Schwarzbauer, K., Mayr, A., Clevert, D.-A., Mitterecker, A., Bodenhofer, U., & Hochreiter, S. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks003 · Cited by 454

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00785-3 · Cited by 438

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

Qi, T., Wu, Y., Zeng, J., Zhang, F., Xue, A., Jiang, L., Zhu, Z., Kemper, K., Yengo, L., Zheng, Z., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04558-1 · Cited by 427

RMBase v2.0: deciphering the map of RNA modifications from epitranscriptome sequencing data

Xuan, J., Sun, W., Lin, P.-H., Zhou, K., Liu, S., Zheng, L., Qu, L., & Yang, J. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx934 · Cited by 426

Sperm Methylation Profiles Reveal Features of Epigenetic Inheritance and Evolution in Primates

Molaro, A., Hodges, E. C., Fang, F., Song, Q., McCombie, W. R., Hannon, G. J., & Smith, A. D. (2011) · Cell · doi:10.1016/j.cell.2011.08.016 · Cited by 436

Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness

Conomos, M. P., Miller, M. B., & Thornton, T. A. (2015) · Genetic Epidemiology · doi:10.1002/gepi.21896 · Cited by 430

Natural selection interacts with recombination to shape the evolution of hybrid genomes

Schumer, M., Xu, C., Powell, D. L., Durvasula, A., Skov, L., Holland, C., Blazier, J. C., Sankararaman, S., Andolfatto, P., Rosenthal, G. G., et al. (2018) · Science · doi:10.1126/science.aar3684 · Cited by 412

Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation

Frei, O., Holland, D., Smeland, O. B., Shadrin, A. A., Fan, C. C., Maeland, S., O’Connell, K. S., Wang, Y., Djurovic, S., Thompson, W. K., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10310-0 · Cited by 416

Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

Revez, J. A., Lin, T., Qiao, Z., Xue, A., Holtz, Y., Zhu, Z., Zeng, J., Wang, H., Sidorenko, J., Kemper, K. E., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15421-7 · Cited by 416

Model-free Estimation of Recent Genetic Relatedness

Conomos, M. P., Reiner, A. P., Weir, B. S., & Thornton, T. A. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.022 · Cited by 410

The human genome project: big science transforms biology and medicine

Hood, L., & Rowen, L. (2013) · Genome Medicine · doi:10.1186/gm483 · Cited by 436

rehh 2.0: a reimplementation of the R package rehh to detect positive selection from haplotype structure

Gautier, M., Klassmann, A., & Vitalis, R. (2016) · Molecular Ecology Resources · doi:10.1111/1755-0998.12634 · Cited by 415

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Nagasaki, M., Yasuda, J., Katsuoka, F., Nariai, N., Kojima, K., Kawai, Y., Yamaguchi‐Kabata, Y., Yokozawa, J., Danjoh, I., Saito, S., et al. (2015) · Nature Communications · doi:10.1038/ncomms9018 · Cited by 393

Signatures of negative selection in the genetic architecture of human complex traits

Zeng, J., de Vlaming, R., Wu, Y., Robinson, M. R., Lloyd-Jones, L. R., Yengo, L., Yap, C. X., Xue, A., Sidorenko, J., McRae, A. F., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0101-4 · Cited by 391

Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70065-1 · Cited by 383

A Crohn’s disease variant in Atg16l1 enhances its degradation by caspase 3

Murthy, A., Li, Y., Peng, I., Reichelt, M., Katakam, A. K., Noubade, R., Roose-Girma, M., DeVoss, J., Diehl, L., Graham, R. R., et al. (2014) · Nature · doi:10.1038/nature13044 · Cited by 381

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Zeitz, C., Robson, A. G., & Audo, I. S. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.09.001 · Cited by 388

Reliable Identification of Genomic Variants from RNA-Seq Data

Piskol, R., Ramaswami, G., & Li, J. B. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.008 · Cited by 398

Genome-Wide Inference of Ancestral Recombination Graphs

Rasmussen, M. D., Hubisz, M. J., Gronau, I., & Siepel, A. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004342 · Cited by 371

Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

Corradin, O., Saiakhova, A., Akhtar-Zaidi, B., Myeroff, L., Willis, J., Cowper-Sal·lari, R., Lupien, M., Markowitz, S., & Scacheri, P. C. (2014) · Genome Research · doi:10.1101/gr.164079.113 · Cited by 366

Clan Genomics and the Complex Architecture of Human Disease

Lupski, J. R., Belmont, J. W., Boerwinkle, E., & Gibbs, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.09.008 · Cited by 375

Early human dispersals within the Americas

Moreno-Mayar, J. V., Vinner, L., Damgaard, P. D. B., Castro, C. D. L. F., Chan, J., Spence, J. P., Allentoft, M. E., Vimala, T., Racimo, F., Pinotti, T., et al. (2018) · Science · doi:10.1126/science.aav2621 · Cited by 383

Variation and genetic control of protein abundance in humans

Wu, L., Candille, S. I., Choi, Y., Xie, D., Jiang, L., Li-Pook-Than, J., Tang, H., & Snyder, M. (2013) · Nature · doi:10.1038/nature12223 · Cited by 364

Heritability and genomics of gene expression in peripheral blood

Wright, F. A., Sullivan, P. F., Brooks, A. I., Zou, F., Sun, W., Xia, K., Madar, V., Jansen, R., Chung, W., Zhou, Y.-H., et al. (2014) · Nature Genetics · doi:10.1038/ng.2951 · Cited by 362

On Detecting Incomplete Soft or Hard Selective Sweeps Using Haplotype Structure

Ferrer-Admetlla, A., Liang, M., Korneliussen, T. S., & Nielsen, R. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu077 · Cited by 386

Genetics of Parkinson's disease

Lill, C. M. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.11.001 · Cited by 387

The Expanding Landscape of Alternative Splicing Variation in Human Populations

Park, E., Pan, Z., Zhang, Z., Lin, L., & Xing, Y. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.11.002 · Cited by 385

Genetic Evidence for Recent Population Mixture in India

Moorjani, P., Thangaraj, K., Patterson, N., Lipson, M., Loh, P.-R., Govindaraj, P., Berger, B., Reich, D., & Singh, L. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.006 · Cited by 350

Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci

Ellinghaus, D., Ellinghaus, E., Nair, R. P., Stuart, P. E., Esko, T., Metspalu, A., Debrus, S., Raelson, J., Tejasvi, T., Belouchi, M., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.020 · Cited by 356

Genome-wide association analysis identifies susceptibility loci for migraine without aura

Freilinger, T. M., Anttila, V., de Vries, B., Malik, R., Kallela, M., Terwindt, G. M., Pozo‐Rosich, P., Winsvold, B. S., Nyholt, D. R., van Oosterhout, W. P. J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2307 · Cited by 350

Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits

Zhou, H., Sealock, J., Sanchez‐Roige, S., Clarke, T., Levey, D. F., Cheng, Z., Li, B., Polimanti, R. A., Kember, R. L., Vickers‐Smith, R., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0643-5 · Cited by 351

The genetic prehistory of southern Africa

Pickrell, J. K., Patterson, N. J., Barbieri, C., Berthold, F., Gerlach, L., Güldemann, T., Kure, B., Mpoloka, S. W., Nakagawa, H., Naumann, C., et al. (2012) · Nature Communications · doi:10.1038/ncomms2140 · Cited by 351

The impact of rare and low-frequency genetic variants in common disease

Bomba, L., Walter, K., & Soranzo, N. (2017) · Genome biology · doi:10.1186/s13059-017-1212-4 · Cited by 369

Enhancing genetic gain in the era of molecular breeding

Xu, Y., Li, P., Zou, C., Lu, Y., Xie, C., Zhang, X., Prasanna, B. M., & Olsen, M. S. (2017) · Journal of Experimental Botany · doi:10.1093/jxb/erx135 · Cited by 351

Reduced signal for polygenic adaptation of height in UK Biobank

Berg, J. J., Harpak, A., Sinnott-Armstrong, N., Joergensen, A. M., Mostafavi, H., Field, Y., Boyle, E. A., Zhang, X., Racimo, F., Pritchard, J. K., et al. (2019) · eLife · doi:10.7554/elife.39725 · Cited by 339

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

Handsaker, R. E., Korn, J. M., Nemesh, J. C., & McCarroll, S. A. (2011) · Nature Genetics · doi:10.1038/ng.768 · Cited by 352

Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits

Lane, J. M., Liang, J., Vlasac, I., Anderson, S. G., Bechtold, D. A., Bowden, J., Emsley, R., Gill, S., Little, M. A., Luik, A. I., et al. (2016) · Nature Genetics · doi:10.1038/ng.3749 · Cited by 346

Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos

Conomos, M. P., Laurie, C. A., Stilp, A. M., Gogarten, S. M., McHugh, C. P., Nelson, S. C., Sofer, T., Fernández-Rhodes, L., Justice, A. E., Graff, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.001 · Cited by 336

MutationTaster2021

Steinhaus, R., Proft, S., Schuelke, M., Cooper, D. N., Schwarz, J. M., & Seelow, D. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab266 · Cited by 343

Ancient genomes show social and reproductive behavior of early Upper Paleolithic foragers

Sikora, M., Seguin-Orlando, A., Sousa, V. C., Albrechtsen, A., Korneliussen, T., Ko, A., Rasmussen, S., Dupanloup, I., Nigst, P. R., Bosch, M. D., et al. (2017) · Science · doi:10.1126/science.aao1807 · Cited by 312

Genomic Ancestry of North Africans Supports Back-to-Africa Migrations

Henn, B. M., Botigué, L. R., Gravel, S., Wang, W., Brisbin, A., Byrnes, J. K., Fadhlaoui-Zid, K., Zalloua, P. A., Moreno-Estrada, A., Bertranpetit, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002397 · Cited by 331

SHANK1 Deletions in Males with Autism Spectrum Disorder

Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.03.017 · Cited by 318

Principal Component Analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated

Elhaik, E. (2022) · Scientific Reports · doi:10.1038/s41598-022-14395-4 · Cited by 342

Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.

Karlsson Linnér, R., Mallard, T. T., Barr, P. B., Sanchez-Roige, S., Madole, J. W., Driver, M. N., Poore, H. E., de Vlaming, R., Grotzinger, A. D., Tielbeek, J. J., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00908-3 · Cited by 317

A genome-wide association study of anorexia nervosa

Perica, V. B., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J. L., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.187 · Cited by 331

Population-specificity of human DNA methylation

Fraser, H. B., Lam, L. L., Neumann, S. M., & Kobor, M. S. (2012) · Genome Biology · doi:10.1186/gb-2012-13-2-r8 · Cited by 313

Copy number variation of individual cattle genomes using next-generation sequencingPreprint

Bickhart, D. M., Hou, Y., Schroeder, S., Alkan, C., Mf, C., Matukumalli, L. K., Song, J., Schnabel, R., Ventura, M., Taylor, J. F., et al. (2012) · Genome Research · doi:10.1101/gr.133967.111 · Cited by 317

Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics

Lamparter, D., Marbach, D., Rueedi, R., Kutalik, Z., & Bergmann, S. (2016) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004714 · Cited by 319

The landscape of recombination in African Americans

Hinch, A. G., Tandon, A., Patterson, N. J., Song, Y., Rohland, N., Palmer, C. D., Chen, G. K., Wang, K., Buxbaum, S. G., Akylbekova, E. L., et al. (2011) · Nature · doi:10.1038/nature10336 · Cited by 316

Population Genetics Models of Local Ancestry

Gravel, S. (2012) · Genetics · doi:10.1534/genetics.112.139808 · Cited by 311

Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease

Kottyan, L. C., Davis, B. P., Sherrill, J. D., Liu, K., Rochman, M., Kaufman, K. M., Weirauch, M. T., Vaughn, S. E., Lázaro, S., Rupert, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3033 · Cited by 309

Fast Principal Component Analysis of Large-Scale Genome-Wide Data

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Ancient west Eurasian ancestry in southern and eastern Africa

Pickrell, J. K., Patterson, N., Loh, P.-R., Lipson, M., Berger, B., Stoneking, M., Pakendorf, B., & Reich, D. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1313787111 · Cited by 300

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics · doi:10.1038/ng.2283 · Cited by 299

Reconstructing Austronesian population history in Island Southeast Asia

Lipson, M., Loh, P., Patterson, N. J., Moorjani, P., Ko, Y., Stoneking, M., Berger, B., & Reich, D. (2014) · Nature Communications · doi:10.1038/ncomms5689 · Cited by 301

Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits

Zhao, B., Luo, T., Li, T., Li, Y., Zhang, J., Shan, Y., Wang, X., Yang, L., Zhou, F., Zhu, Z., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0516-6 · Cited by 295

Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas

Galanter, J., Fernández-López, J. C., Gignoux, C. R., Barnholtz‐Sloan, J. S., Fernández–Rozadilla, C., Vía, M., Hidalgo‐Miranda, A., Contreras, A. V., Uribe-Figueroa, L., Raska, P., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002554 · Cited by 305

Individual differences in amygdala-medial prefrontal anatomy link negative affect, impaired social functioning, and polygenic depression risk

Holmes, A. J., Lee, P. H., Hollinshead, M. O., Bakst, L., Roffman, J. L., Smoller, J. W., & Buckner, R. L. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.2531-12.2012 · Cited by 293

Systems proteomics of liver mitochondria function

Williams, E. G., Wu, Y., Jha, P., Dubuis, S., Blattmann, P., Argmann, C. A., Houten, S. M., Amariuta, T., Wolski, W., Zamboni, N., et al. (2016) · Science · doi:10.1126/science.aad0189 · Cited by 289

Admixture into and within sub-Saharan Africa

Busby, G., Band, G., Le, S. Q., Jallow, M., Bougama, E., Mangano, V. D., Amenga-Etego, L. N.-K., Enimil, A. K., Apinjoh, T. O., Ndila, C., et al. (2016) · eLife · doi:10.7554/elife.15266 · Cited by 293

Transethnic meta‐analysis of genomewide association studies

Morris, A. P. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20630 · Cited by 299

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

Pereira, R., Oliveira, J., & Sousa, M. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9010132 · Cited by 308

The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository

Jernigan, T. L., Brown, T. T., Hagler, D. J., Akshoomoff, N. A., Bartsch, H., Newman, E. R., Thompson, W. K., Bloss, C. S., Murray, S. S., Schork, N. J., et al. (2015) · NeuroImage · doi:10.1016/j.neuroimage.2015.04.057 · Cited by 281

Exonic Transcription Factor Binding Directs Codon Choice and Affects Protein Evolution

Stergachis, A. B., Haugen, E., Shafer, A., Fu, W., Vernot, B., Reynolds, A. P., Raubitschek, A., Ziegler, S. F., LeProust, E. M., Akey, J. M., et al. (2013) · Science · doi:10.1126/science.1243490 · Cited by 288

Genomics of Cardiovascular Disease

O’Donnell, C. J., & Nabel, E. G. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1105239 · Cited by 287

Machine Learning in Genomic Medicine: A Review of Computational Problems and Data Sets

Leung, M. K. K., Delong, A., Alipanahi, B., & Frey, B. J. (2015) · Proceedings of the IEEE · doi:10.1109/jproc.2015.2494198 · Cited by 284

Current sequencing technology makes microhaplotypes a powerful new type of genetic marker for forensics

Kídd, K. K., PAKSTIS, A. J., Speed, W. C., Lagace, R. E., Chang, J., Wootton, S., Haigh, E., & Kidd, J. R. (2014) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2014.06.014 · Cited by 276

Quantifying genetic effects on disease mediated by assayed gene expression levels

Yao, D. W., O’Connor, L. J., Price, A. L., & Gusev, A. (2020) · Nature Genetics · doi:10.1038/s41588-020-0625-2 · Cited by 278

Toward a new history and geography of human genes informed by ancient DNA

Pickrell, J. K., & Reich, D. (2014) · Trends in Genetics · doi:10.1016/j.tig.2014.07.007 · Cited by 276

Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations

Wang, Y., Guo, J., Ni, G., Yang, J., Visscher, P. M., & Yengo, L. (2020) · Nature Communications · doi:10.1038/s41467-020-17719-y · Cited by 271

Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning

Liu, Y., Basty, N., Whitcher, B. J., Bell, J. D., Sorokin, E. P., van Bruggen, N., Thomas, E. L., & Cule, M. (2021) · eLife · doi:10.7554/elife.65554 · Cited by 270

Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer

Childs, E. J., Mocci, E., Campa, D., Bracci, P. M., Gallinger, S., Goggins, M., Li, D., Neale, R. Ε., Olson, S. H., Scélo, G., et al. (2015) · Nature Genetics · doi:10.1038/ng.3341 · Cited by 265

Population structure in genetic studies: Confounding factors and mixed models

Sul, J. H., Martin, L. S., & Eskin, E. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007309 · Cited by 286

Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Ameur, A., Enroth, S., Johansson, Å., Zaboli, G., Igl, W., Johansson, A., Rivas, M. A., Daly, M. J., Schmitz, G., Hicks, A. A., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.03.014 · Cited by 265

Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding

Paré, G., Eriksson, N., Lehr, T., Connolly, S. J., Eikelboom, J. W., Ezekowitz, M. D., Axelsson, T., Haertter, S., Oldgren, J., Reilly, P. A., et al. (2013) · Circulation · doi:10.1161/circulationaha.112.001233 · Cited by 257

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

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SumHer better estimates the SNP heritability of complex traits from summary statistics

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