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

Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome

Park, S., Kim, S., Kim, B., Kim, D. S., Kim, J., Ahn, Y., Kim, H., Song, M., Shim, I., Jung, S., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01933-1 · Cited by 82

Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits

Hu, S., Ferreira, L. A. F., Shi, S., Hellenthal, G., Marchini, J., Lawson, D. J., & Myers, S. (2025) · Nature Genetics · doi:10.1038/s41588-024-02035-8 · Cited by 75

Expression quantitative trait locus analysis for translational medicine

Gibson, G. C., Powell, J. E., & Marigorta, U. M. (2015) · Genome Medicine · doi:10.1186/s13073-015-0186-7 · Cited by 77

Smoking and Genetic Risk Variation Across Populations of E uropean, A sian, and A frican A merican Ancestry—A Meta‐Analysis of Chromosome 15q25

Chen, L., Saccone, N. L., Culverhouse, R., Bracci, P. M., Chen, C.-H., Dueker, N., Han, Y., Huang, H., Jin, G., Kohno, T., et al. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21627 · Cited by 77

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

Tsai, E. A., Grochowski, C. M., Loomes, K. M., Bessho, K., Hakonarson, H. H., Bezerra, J. A., Russo, P., Haber, B. A., Spinner, N. B., & Devoto, M. (2013) · Human Genetics · doi:10.1007/s00439-013-1368-2 · Cited by 74

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

Tsoi, H., Yu, A. C.-S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J., Tsang, S. Y., Tsui, S. K., Tong, T. M. F., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102333 · Cited by 76

A meta-analysis of gene expression quantitative trait loci in brain

Kim, Y., Xia, K., Tao, R., Giusti-Rodriguez, P., Vladimirov, V, van den Oord, E., & Sullivan, P. F. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.96 · Cited by 73

Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in African Americans

McLaren, P. J., Ripke, S., Pelak, K., Weintrob, A., Patsopoulos, N. A., Jia, X., Erlich, R., Lennon, N. J., Kadie, C. M., Heckerman, D. E., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds226 · Cited by 73

Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81)

Solé‐Morata, N., García-Fernández, C., Urasin, V., Bekada, A., Fadhlaoui‐Zid, K., Zalloua, P., Comas, D., & Calafell, F. (2017) · Scientific Reports · doi:10.1038/s41598-017-16271-y · Cited by 75

ChIPBase v3.0: the encyclopedia of transcriptional regulations of non-coding RNAs and protein-coding genes

Huang, J., Zheng, W., Zhang, P., Lin, Q., Chen, Z., Xuan, J., Liu, C., Wu, D., Huang, Q.-J., Zheng, L., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1067 · Cited by 73

Indigenous Australian genomes show deep structure and rich novel variation

Silcocks, M., Farlow, A., Hermes, A., Tsambos, G., Patel, H. R., Huebner, S., Baynam, G. S., Jenkins, M. R., Vukcevic, D., Easteal, S., et al. (2023) · Nature · doi:10.1038/s41586-023-06831-w · Cited by 75

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Gennarino, V. A., Alcott, C. E., Chen, C., Chaudhury, A., Gillentine, M. A., Rosenfeld, J. A., Parikh, S., Wheless, J. W., Roeder, E. R., Horovitz, D. D. G., et al. (2015) · eLife · doi:10.7554/elife.10782 · Cited by 74

An overview of human genetic privacy

Shi, X. M., & Wu, X. (2016) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13211 · Cited by 74

The origin, global distribution, and functional impact of the human 8p23 inversion polymorphismPreprint

Salm, M. P., Horswell, S. D., Hutchison, C. E., Speedy, H. E., Yang, X., Liang, L., Schadt, E. E., Cookson, W., Wierzbicki, A. S., Naoumova, R. P., et al. (2012) · Genome Research · doi:10.1101/gr.126037.111 · Cited by 76

Genetic study of multimodal imaging Alzheimer’s disease progression score implicates novel loci

Scelsi, M. A., Khan, R. R., Lorenzi, M., Christopher, L., Greicius, M. D., Schott, J. M., Ourselin, S., & Altmann, A. (2018) · Brain · doi:10.1093/brain/awy141 · Cited by 73

Evaluation of the Metabochip Genotyping Array in African Americans and Implications for Fine Mapping of GWAS-Identified Loci: The PAGE Study

Buyske, S. G., Wu, Y., Carty, C. L., Cheng, I. C., Assimes, T. L., Dumitrescu, L. C., Hindorff, L. A., Mitchell, S. L., Ambite, J. L., Boerwinkle, E., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0035651 · Cited by 74

Impact of QTL properties on the accuracy of multi-breed genomic prediction

Wientjes, Y. C. J., Calus, M. P. L., Goddard, M. E., & Hayes, B. J. (2015) · Genetics Selection Evolution · doi:10.1186/s12711-015-0124-6 · Cited by 72

Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans

Carty, C. L., Keene, K. L., Cheng, Y.-C., Meschia, J. F., Chen, W., Nalls, M. A., Bis, J. C., Kittner, S. J., Rich, S. S., Tajuddin, S. M., et al. (2015) · Stroke · doi:10.1161/strokeaha.115.009044 · Cited by 73

Next generation deep sequencing and vaccine design: today and tomorrow

Luciani, F., Bull, R. A., & Lloyd, A. R. (2012) · Trends in biotechnology · doi:10.1016/j.tibtech.2012.05.005 · Cited by 72

Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics

McDonough, C. W., Burbage, S. E., Duarte, J. D., Gong, Y., Langaee, T. Y., Turner, S. T., Gums, J. G., Chapman, A. B., Bailey, K. R., Beitelshees, A. L., et al. (2013) · Journal of Hypertension · doi:10.1097/hjh.0b013e32835e2a71 · Cited by 74

GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data

Zhao, K., Lu, Z., Park, J. W., Zhou, Q., & Xing, Y. (2013) · Genome biology · doi:10.1186/gb-2013-14-7-r74 · Cited by 76

Additive Genetic Variation in Schizophrenia Risk Is Shared by Populations of African and European Descent

de Candia, T. R., Lee, S., Yang, J., Browning, B. L., Gejman, P. V., Levinson, D. F., Mowry, B. J., Hewitt, J. K., Goddard, M. E., O’Donovan, M. C., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.007 · Cited by 72

Genomic variations in non-coding RNAs: Structure, function and regulation

Bhartiya, D., & Scaria, V. (2016) · Genomics · doi:10.1016/j.ygeno.2016.01.005 · Cited by 75

Using three-dimensional regulatory chromatin interactions from adult and fetal cortex to interpret genetic results for psychiatric disorders and cognitive traitsPreprint

Giusti‐Rodríguez, P., & Sullivan, P. F. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/406330 · Cited by 78

GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture

Matoba, N., Akiyama, M., Ishigaki, K., Kanai, M., Takahashi, A., Momozawa, Y., Ikegawa, S., Ikeda, M., Iwata, N., Hirata, M., et al. (2019) · Nature Human Behaviour · doi:10.1038/s41562-019-0557-y · Cited by 71

Quantifying the contribution of Neanderthal introgression to the heritability of complex traits

McArthur, E., Rinker, D. C., & Capra, J. A. (2021) · Nature Communications · doi:10.1038/s41467-021-24582-y · Cited by 71

Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population

Schurz, H., Muller, S., van Helden, P. D., Tromp, G., Hoal, E. G., Kinnear, C. J., & Möller, M. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00034 · Cited by 74

AuthentiCT: a model of ancient DNA damage to estimate the proportion of present-day DNA contamination

Peyrégne, S., & Peter, B. M. (2020) · Genome Biology · doi:10.1186/s13059-020-02123-y · Cited by 71

Limb development genes underlie variation in human fingerprint patterns

Li, J., Glover, J. D., Zhang, H., Peng, M., Tan, J., Mallick, C. B., Hou, D., Yang, Y., Wu, S., Liu, Y., et al. (2022) · Cell · doi:10.1016/j.cell.2021.12.008 · Cited by 75

Inference of Ancestral Recombination Graphs through Topological Data Analysis

Cámara, P. G., Levine, A. J., & Rabadán, R. (2016) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1005071 · Cited by 71

Genetic variants inCYP(-1A2,-2C9,-2C19,-3A4and-3A5),VKORC1andABCB1genes in a black South African population: a window into diversity

Dandara, C., Lombard, Z., Plooy, I., McLellan, T., Norris, S. A., & Ramsay, M. (2011) · Pharmacogenomics · doi:10.2217/pgs.11.106 · Cited by 71

Donor ABCB1 Variant Associates with Increased Risk for Kidney Allograft Failure

Moore, J., McKnight, A. J., Döhler, B., Simmonds, M. J., Courtney, A. E., Brand, O. J., Briggs, D., Ball, S. T., Cockwell, P., Patterson, C., et al. (2012) · Journal of the American Society of Nephrology · doi:10.1681/asn.2012030260 · Cited by 71

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions

Dauber, A. N., Yu, Y., Turchin, M. C., Chiang, C. W. K., Meng, Y., Demerath, E. W., Patel, S. R., Rich, S. S., Rotter, J. I., Schreiner, P. J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.014 · Cited by 73

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Belkadi, A., Pedergnana, V., Cobat, A., Itan, Y., Vincent, Q. B., Abhyankar, A., Shang, L., Baghdadi, J. E., Bousfiha, A. A., Alcaïs, A., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1606460113 · Cited by 76

Comparison of the MHC I Immunopeptidome Repertoire of B‐Cell Lymphoblasts Using Two Isolation Methods

Lanoix, J., Durette, C., Courcelles, M., Cossette, É., Comtois‐Marotte, S., Hardy, M., Côté, C., Perreault, C., & Thibault, P. (2018) · PROTEOMICS · doi:10.1002/pmic.201700251 · Cited by 71

Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology

Wang, Y., Kanai, M., Tan, T., Kamariza, M., Tsuo, K., Yuan, K., Zhou, W., Okada, Y., The Biobank Japan Project, Huang, H., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100408 · Cited by 73

DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes

Kuan, V., Martineau, A. R., Griffiths, C., Hyppönen, E., & Walton, R. T. (2013) · BMC Evolutionary Biology · doi:10.1186/1471-2148-13-144 · Cited by 73

ICSNPathway: identify candidate causal SNPs and pathways from genome-wide association study by one analytical framework

Zhang, K., Chang, S., Cui, S., Guo, L., Zhang, L., & Wang, J. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr391 · Cited by 70

Investigation of the Genetic Association between Quantitative Measures of Psychosis and Schizophrenia: A Polygenic Risk Score Analysis

Derks, E. M., Vorstman, J. A. S., Ripke, S., Kahn, R. S., & Ophoff, R. A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0037852 · Cited by 70

System-Wide Associations between DNA-Methylation, Gene Expression, and Humoral Immune Response to Influenza Vaccination

Zimmermann, M. T., Oberg, A. L., Grill, D. E., Ovsyannikova, I. G., Haralambieva, I. H., Kennedy, R. B., & Poland, G. A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0152034 · Cited by 71

Detection of Allelic Frequency Differences between the Sexes in Humans: A Signature of Sexually Antagonistic Selection

Lucotte, E. A., Laurent, R., Heyer, É., Ségurel, L., & Toupance, B. (2016) · Genome Biology and Evolution · doi:10.1093/gbe/evw090 · Cited by 74

Human demographic history has amplified the effects of background selection across the genome

Torres, R., Szpiech, Z. A., & Hernandez, R. D. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007387 · Cited by 75

Knowledge-Driven Analysis Identifies a Gene–Gene Interaction Affecting High-Density Lipoprotein Cholesterol Levels in Multi-Ethnic Populations

Ma, L., Brautbar, A., Boerwinkle, E., Sing, C. F., Clark, A. G., & Keinan, A. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002714 · Cited by 70

Elucidating the editome: bioinformatics approaches for RNA editing detection

Diroma, M. A., Ciaccia, L., Pesole, G., & Picardi, E. (2017) · Briefings in Bioinformatics · doi:10.1093/bib/bbx129 · Cited by 69

Extreme inbreeding in a European ancestry sample from the contemporary UK population

Yengo, L., Wray, N. R., & Visscher, P. M. (2019) · Nature Communications · doi:10.1038/s41467-019-11724-6 · Cited by 70

Relationship between Interleukin-6 Gene Polymorphism and Hippocampal Volume in Antipsychotic-Naïve Schizophrenia: Evidence for Differential Susceptibility?

Kalmady, S. V., Venkatasubramanian, G., Shivakumar, V., Gautham, S., Subramaniam, A., Jose, D. A., Maitra, A., Ravi, V., & Gangadhar, B. N. (2014) · PLoS ONE · doi:10.1371/journal.pone.0096021 · Cited by 69

Integrated Analyses of Copy Number Variations and Gene Expression in Lung Adenocarcinoma

Lu, T., Lai, L., Tsai, M., Chen, P., Hsu, C., Lee, J., Hsiao, C. K., & Chuang, E. Y.-Y. (2011) · PLoS ONE · doi:10.1371/journal.pone.0024829 · Cited by 69

Worldwide Variation in Human Drug-Metabolism Enzyme GenesCYP2B6andUGT2B7: Implications for HIV/AIDS Treatment

Li, J., Ménard, V., Benish, R. L., Jurevic, R. J., Guillemette, C., Stoneking, M., Zimmerman, P. A., & Mehlotra, R. K. (2012) · Pharmacogenomics · doi:10.2217/pgs.11.160 · Cited by 70

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Wang, M., Beck, C. R., English, A. C., Meng, Q., Buhay, C., Han, Y., Doddapaneni, H., Yu, F., Boerwinkle, E., Lupski, J. R., et al. (2015) · BMC Genomics · doi:10.1186/s12864-015-1370-2 · Cited by 72

Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias

Didion, J. P., Yang, H., Sheppard, K., Fu, C.-P., McMillan, L., de Villena, F. P., & Churchill, G. A. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-34 · Cited by 70

Polygenic risk for schizophrenia and measured domains of cognition in individuals with psychosis and controls

Shafee, R., Nanda, P., Padmanabhan, J. L., Tandon, N., Alliey‐Rodriguez, N., Kalapurakkel, S. S., Weiner, D. J., Gur, R. E., Keefe, R. S. E., Hill, S. K., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0124-8 · Cited by 69

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Timpson, N. J., Walter, K., Min, J. L., Tachmazidou, I., Malerba, G., Shin, S., Chen, L., Futema, M., Southam, L., Iotchkova, V., et al. (2014) · Nature Communications · doi:10.1038/ncomms5871 · Cited by 70

Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations

Quick, C., Anugu, P., Musani, S. K., Weiss, S. T., Burchard, E. G., White, M. J., Keys, K. L., Cucca, F., Sidore, C., Boehnke, M., et al. (2020) · Genetic Epidemiology · doi:10.1002/gepi.22326 · Cited by 77

Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases

Feleke, R., Reynolds, R. H., Smith, A. M., Tilley, B. S., Taliun, S. A. G., Hardy, J., Matthews, P. M., Gentleman, S., Owen, D. R., Johnson, M. R., et al. (2021) · Acta Neuropathologica · doi:10.1007/s00401-021-02343-x · Cited by 69

An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

Cho, Y. S., Kim, H., Kim, H., Jho, S., Jun, J., Lee, Y. J., Chae, K. S., Kim, C.-G., Kim, S., Eriksson, A., et al. (2016) · Nature Communications · doi:10.1038/ncomms13637 · Cited by 70

Resetting the bar: Statistical significance in whole‐genome sequencing‐based association studies of global populations

Pulit, S. L., de With, S. A. J., & de Bakker, P. I. W. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22032 · Cited by 67

A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes

Lee, Y., Lai, C., Ordovás, J. M., & Parnell, L. D. (2011) · Journal of Data Mining in Genomics & Proteomics · doi:10.4172/2153-0602.1000106 · Cited by 67

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Tropeano, M., Howley, D., Gazzellone, M. J., Wilson, C., Ahn, J. W., Stavropoulos, D. J., Murphy, C. M., Eis, P. S., Hatchwell, E., Dobson, R., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103621 · Cited by 69

A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome

Garg, P., Joshi, R. S., Watson, C. T., & Sharp, A. J. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007707 · Cited by 73

On the cross-population generalizability of gene expression prediction models

Keys, K. L., Mak, A. C. Y., White, M. J., Eckalbar, W. L., Dahl, A., Mefford, J., Mikhaylova, A. V., Contreras, M. G., Elhawary, J. R., Eng, C. S., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008927 · Cited by 71

Analysis of genetic dominance in the UK Biobank

Palmer, D. S., Zhou, W., Abbott, L. E., Wigdor, E. M., Baya, N. A., Churchhouse, C. L., Seed, C., Poterba, T., King, D. A., Kanai, M., et al. (2023) · Science · doi:10.1126/science.abn8455 · Cited by 73

Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms

Haraksingh, R., Abyzov, A. S., Gerstein, M., Urban, A. E., & Snyder, M. P. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027859 · Cited by 68

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Gaston, D., Hansford, S., Oliveíra, C., Nightingale, M., Pinheiro, H. C., Macgillivray, C., Kaurah, P., Rideout, A. L., Steele, P., Soares, G., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004669 · Cited by 67

A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

González, J. R., Cáceres, A., Esko, T., Cuscó, I., Puig, M., Esnaola, M., Reina-Castillón, J., Siroux, V., Bouzigon, E., Nadif, R., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.01.015 · Cited by 70

The influence of race and ethnicity on the biology of cancer

Henderson, B. E., Lee, N. H., Seewaldt, V. L., & Shen, H. (2012) · Nature reviews. Cancer · doi:10.1038/nrc3341 · Cited by 68

Genome-Wide Association Studies Suggest Limited Immune Gene Enrichment in Schizophrenia Compared to 5 Autoimmune Diseases

Pouget, J. G., Gonçalves, V. F., Spain, S. L., Finucane, H. K., Raychaudhuri, S., Kennedy, J. L., & Knight, J. (2016) · Schizophrenia Bulletin · doi:10.1093/schbul/sbw059 · Cited by 71

Reconstructing human population history from dental phenotypes

Rathmann, H., Reyes‐Centeno, H., Ghirotto, S., Creanza, N., Hanihara, T., & Harvati, K. (2017) · Scientific Reports · doi:10.1038/s41598-017-12621-y · Cited by 72

Correction: Signatures of Environmental Genetic Adaptation Pinpoint Pathogens as the Main Selective Pressure through Human Evolution

Fumagalli, M., Sironi, M., Pozzoli, U., Ferrer-Admetlla, A., Pattini, L., & Nielsen, R. (2011) · PLoS Genetics · doi:10.1371/annotation/ca428083-dbcb-476a-956c-d7bb6e317cf7 · Cited by 71

Shades of complexity: New perspectives on the evolution and genetic architecture of human skin

Quillen, E. E., Norton, H. L., Parra, E. J., Lona‐Durazo, F., Ang, K. C., Illiescu, F. M., Pearson, L. N., Shriver, M. D., Lasisi, T., Gokcumen, O., et al. (2019) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23737 · Cited by 67

Pathway-based discovery of genetic interactions in breast cancer

Wang, W., Xu, Z., Costanzo, M., Boone, C. M., Lange, C. A., & Myers, C. L. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006973 · Cited by 68

Benchmarking germline CNV calling tools from exome sequencing data

Gordeeva, V. D., Sharova, E. I., Babalyan, K., Sultanov, R., Govorun, V. M., & Arapidi, G. P. (2021) · Scientific Reports · doi:10.1038/s41598-021-93878-2 · Cited by 73

Human genome variability, natural selection and infectious diseases

Fumagalli, M., & Sironi, M. (2014) · Current Opinion in Immunology · doi:10.1016/j.coi.2014.05.001 · Cited by 72

Mapping of disease-associated variants in admixed populations

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Copy number variation in the cattle genome

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