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

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

Reumers, J., Rijk, P. D., Zhao, H., Liekens, A. M. L., Smeets, D., Cleary, J., Loo, P. V., Bossche, M. J. A. V. D., Catthoor, K., Sabbe, B., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.2053 · Cited by 239

Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images

Zhao, B., Li, T., Fan, Z., Yang, Y., Shu, J., Yang, X., Wang, X., Luo, T., Tang, J., Xiong, D., et al. (2023) · Science · doi:10.1126/science.abn6598 · Cited by 235

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

Keaton, J. M., Kamali, Z., Xie, T., Vaez, A., Williams, A., Goleva, S. B., Ani, A., Εvangelou, Ε., Hellwege, J. N., Yengo, L., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01714-w · Cited by 241

Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool

Pagani, L., Kivisild, T., Tarekegn, A., Ekong, R., Plaster, C., Gallego Romero, I., Ayub, Q., Mehdi, S. Q., Thomas, M. G., Luiselli, D., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.015 · Cited by 230

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

Maier, R., Moser, G., Chen, G., Ripke, S., Absher, D., Agartz, I., Akil, H., D, F. A. M., Andreassen, O. A., Anjorin, A., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.12.006 · Cited by 234

Genetic variants associated with longitudinal changes in brain structure across the lifespan

Brouwer, R. M., Klein, M., Grasby, K. L., Schnack, H. G., Jahanshad, N., Teeuw, J., Thomopoulos, S. I., Sprooten, E., Franz, C. E., Gogtay, N., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01042-4 · Cited by 231

Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation

Watson, C. T., Steinberg, K. M., Huddleston, J., Warren, R. M., Malig, M., Schein, J. E., Willsey, A. J., Joy, J. B., Scott, J. K., Graves, T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.004 · Cited by 229

Genomic landscape of high-grade meningiomas

Bi, W. L., Greenwald, N. F., Abedalthagafi, M., Wala, J. A., Gibson, W. J., Agarwalla, P. K., Horowitz, P. M., Schumacher, S. E., Esaulova, E., Mei, Y., et al. (2017) · npj Genomic Medicine · doi:10.1038/s41525-017-0014-7 · Cited by 229

Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits

Zhu, Z., Bakshi, A., Vinkhuyzen, A. A. E., Hemani, G., Lee, S. H., Nolte, I. M., van Vliet-Ostaptchouk, J. V., Snieder, H., Esko, T., Milani, L., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.01.001 · Cited by 224

Systems Genetics of Metabolism: The Use of the BXD Murine Reference Panel for Multiscalar Integration of Traits

Andreux, P. A., Williams, E. G., Koutníková, H., Houtkooper, R. H., Champy, M., Henry, H., Schoonjans, K., Williams, R. W., & Auwerx, J. H. (2012) · Cell · doi:10.1016/j.cell.2012.08.012 · Cited by 226

Evolution of the primate trypanolytic factor APOL1

Thomson, R. P., Genovese, G., Canon, C. M., Kovacsics, D., Higgins, M. K., Carrington, M., Winkler, C. A., Kopp, J. B., Rotimi, C. N., Adeyemo, A., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1400699111 · Cited by 233

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

Mitt, M., Kals, M., Pärn, K., Gabriel, S., Lander, E. S., Palotie, A. V., Ripatti, S., Morris, A. P., Metspalu, A., Esko, T., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.51 · Cited by 228

Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries

Zheng, Z., Liu, S., Sidorenko, J., Wang, Y., Lin, T., Yengo, L., Turley, P., Ani, A., Wang, R., Nolte, I. M., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01704-y · Cited by 251

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

Coventry, A., Bull–Otterson, L., Liu, X., Clark, A. G., Maxwell, T. J., Crosby, J. R., Hixson, J. E., Rea, T. J., Muzny, D. M., Lewis, L. R., et al. (2010) · Nature Communications · doi:10.1038/ncomms1130 · Cited by 229

Genotype Imputation from Large Reference Panels

Das, S., Abecasis, G. R., & Browning, B. L. (2018) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083117-021602 · Cited by 232

Revisiting Mendelian disorders through exome sequencing

Ku, C., Naidoo, N., & Yudi Pawitan, Y. (2011) · Human Genetics · doi:10.1007/s00439-011-0964-2 · Cited by 230

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Morales, J., Welter, D., Bowler, E. H., Cerezo, M., Harris, L. W., McMahon, A. C., Hall, P., Junkins, H. A., Milano, A., Hastings, E., et al. (2018) · Genome Biology · doi:10.1186/s13059-018-1396-2 · Cited by 217

Genetic Signatures Reveal High-Altitude Adaptation in a Set of Ethiopian Populations

Huerta‐Sánchez, E., DeGiorgio, M., Pagani, L., Tarekegn, A., Ekong, R., Antão, T., Cardona, A., Montgomery, H., Cavalleri, G. L., Robbins, P. A., et al. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst089 · Cited by 223

Common genetic variation influencing human white matter microstructure

Zhao, B., Li, T., Yang, Y., Wang, X., Luo, T., Shan, Y., Zhu, Z., Xiong, D., Hauberg, M. E., Bendl, J. M., et al. (2021) · Science · doi:10.1126/science.abf3736 · Cited by 222

Genome-wide data substantiate Holocene gene flow from India to Australia

Pugach, I., Delfin, F. C., Gunnarsdóttir, E. D., Kayser, M., & Stoneking, M. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211927110 · Cited by 219

Cancer pharmacogenomics: strategies and challenges

Wheeler, H. E., Maitland, M. L., Dolan, M. E., Cox, N. J., & Ratain, M. J. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3352 · Cited by 221

Recovery of trait heritability from whole genome sequence data

Wainschtein, P., Jain, D., Zheng, Z., TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples, L. A., Shadyab, A. H., McKnight, B., Shoemaker, B. M., Mitchell, B. D., et al. (2019) · doi:10.1101/588020 · Cited by 515

GWASdb: a database for human genetic variants identified by genome-wide association studies

Li, M. J., Wang, P., Liu, X., Lim, E. L., Wang, Z., Yeager, M., Wong, M. P., Sham, P. C., Chanock, S. J., & Wang, J. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr1182 · Cited by 218

Variant detection sensitivity and biases in whole genome and exome sequencing

Meynert, A. M., Ansari, M., FitzPatrick, D. R., & Taylor, M. S. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-247 · Cited by 211

Next generation genome-wide association tool: Design and coverage of a high-throughput European-optimized SNP array

Hoffmann, T. J., Kvale, M. N., Hesselson, S., Zhan, Y., Aquino, C., Cao, Y., Cawley, S. E., Chung, E. H., Connell, S., Eshragh, J. L., et al. (2011) · Genomics · doi:10.1016/j.ygeno.2011.04.005 · Cited by 213

Detecting Structure of Haplotypes and Local Ancestry

Guan, Y. (2014) · Genetics · doi:10.1534/genetics.113.160697 · Cited by 216

Microhaplotypes in forensic genetics

Oldoni, F., Kídd, K. K., & Podini, D. S. (2018) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2018.09.009 · Cited by 214

Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans

Cenik, C., Cenik, E. S., Byeon, G. W., Grubert, F., Candille, S. I., Spacek, D., Alsallakh, B., Tilgner, H., Araya, C. L., Tang, H., et al. (2015) · Genome Research · doi:10.1101/gr.193342.115 · Cited by 208

Gene set analysis of genome-wide association studies: Methodological issues and perspectives

Wang, L., Jia, P., Wolfinger, R. D., Chen, X., & Zhao, Z. (2011) · Genomics · doi:10.1016/j.ygeno.2011.04.006 · Cited by 207

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

Chen, W., Larrabee, B. R., Ovsyannikova, I. G., Kennedy, R. B., Haralambieva, I. H., Poland, G. A., & Schaid, D. J. (2015) · Genetics · doi:10.1534/genetics.115.176107 · Cited by 207

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Rabbani, B., Mahdieh, N., Hosomichi, K., Nakaoka, H., & Inoue, I. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.91 · Cited by 217

BITE: an R package for biodiversity analysesPreprint

Milanesi, M., Capomaccio, S., Vajana, E., Bomba, L., Garcia, J. F., Ajmone‐Marsan, P., & Colli, L. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/181610 · Cited by 214

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

Prasad, A., Merico, D., Thiruvahindrapuram, B., Wei, J., Lionel, A. C., Sato, D., Rickaby, J., Lu, C., Szatmari, P., Roberts, W., et al. (2012) · G3 Genes|Genomes|Genetics · doi:10.1534/g3.112.004689 · Cited by 206

Estimating Kinship in Admixed Populations

Thornton, T. A., Tang, H., Hoffmann, T. J., Ochs‐Balcom, H. M., Caan, B. J., & RISCH, N. J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.024 · Cited by 210

Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1

Bown, M. J., Jones, G. T., Harrison, S. C., Wright, B. J., Bumpstead, S., Baas, A. F., Grétarsdóttir, S., Badger, S. A., Bradley, D., Burnand, K. G., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.002 · Cited by 206

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

Vaags, A. K., Lionel, A. C., Sato, D., Goodenberger, M. L., Stein, Q., Curran, S. R., Ogilvie, C. M., Ahn, J. W., Drmic, I., Senman, L., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.025 · Cited by 217

The NIH Toolbox Cognition Battery: Results from a large normative developmental sample (PING).

Akshoomoff, N. A., Newman, E. R., Thompson, W. K., McCabe, C. J., Bloss, C. S., Chang, L., Amaral, D. G., Casey, B. J., Ernst, T. M., Frazier, J. A., et al. (2013) · Neuropsychology · doi:10.1037/neu0000001 · Cited by 215

Human pigmentation genes under environmental selection

Sturm, R. A., & Duffy, D. L. (2012) · Genome Biology · doi:10.1186/gb-2012-13-9-248 · Cited by 182

Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

Power, R. A., Tansey, K. E., Buttenschøn, H. N., Cohen‐Woods, S., Bigdeli, T. B., Hall, L. S., Kutalik, Z., Lee, S., Ripke, S., Steinberg, S., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.05.010 · Cited by 210

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts

Ni, G., Zeng, J., Revez, J. A., Wang, Y., Zheng, Z., Ge, T., Restuadi, R., Kiewa, J., Nyholt, D. R., Coleman, J. R. I., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.04.018 · Cited by 213

A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq data

Skelly, D. A., Johansson, M., Madeoy, J., Wakefield, J., & Akey, J. M. (2011) · Genome Research · doi:10.1101/gr.119784.110 · Cited by 203

Review of processing and analysis methods for DNA methylation array data

Wilhelm-Benartzi, C. S., Koestler, D. C., Karagas, M. R., Flanagan, J. M., Christensen, B. C., Kelsey, K. T., Marsit, C. J., Houseman, E. A., & Brown, R. E. (2013) · British Journal of Cancer · doi:10.1038/bjc.2013.496 · Cited by 209

Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants

Persyn, E., Hanscombe, K. B., Howson, J. M. M., Lewis, C. M., Traylor, M., & Markus, H. S. (2020) · Nature Communications · doi:10.1038/s41467-020-15932-3 · Cited by 208

Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability

McArthur, E., & Capra, J. A. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.01.001 · Cited by 207

Mining the Unknown: A Systems Approach to Metabolite Identification Combining Genetic and Metabolic Information

Krumsiek, J., Suhre, K., Evans, A. M., Mitchell, M. W., Mohney, R. P., Milburn, M. V., Wägele, B., Römisch-Margl, W., Illig, T., Adamski, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003005 · Cited by 197

Identity by Descent Between Distant Relatives: Detection and Applications

Browning, S. R., & Browning, B. L. (2012) · Annual Review of Genetics · doi:10.1146/annurev-genet-110711-155534 · Cited by 206

Comprehensive variation discovery in single human genomes

Weisenfeld, N., Yin, S., Sharpe, T., Lau, B., Hegarty, R., Holmes, L., Sogoloff, B., Tabbaa, D., Williams, L., Russ, C., et al. (2014) · Nature Genetics · doi:10.1038/ng.3121 · Cited by 196

RMBase: a resource for decoding the landscape of RNA modifications from high-throughput sequencing data

Sun, W., Li, J.-H., Liu, S., Wu, J., Zhou, H., Qu, L., & Yang, J.-H. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv1036 · Cited by 199

Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals

Price, A. L., Helgason, A., Þorleifsson, G., McCarroll, S. A., Kong, A., & Stefánsson, K. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001317 · Cited by 198

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

Strausz, S., Ruotsalainen, S., Ollila, H. M., Karjalainen, J., Kiiskinen, T., Reeve, M., Kurki, M., Mars, N., Havulinna, A. S., Luonsi, E., et al. (2021) · European Respiratory Journal · doi:10.1183/13993003.03091-2020 · Cited by 194

Genetic mapping of etiologic brain cell types for obesity

Timshel, P. N., Thompson, J. J., & Pers, T. H. (2020) · eLife · doi:10.7554/elife.55851 · Cited by 202

Distinguishing between selective sweeps from standing variation and from a de novo mutation

Peter, B. M., Huerta-Sanchez, E., & Nielsen, R. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003011 · Cited by 193

Human genetics of tuberculosis: a long and winding road

Abel, L., Baghdadi, J. E., Bousfiha, A. A., Casanova, J., & Schurr, E. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0428 · Cited by 201

The functional spectrum of low-frequency coding variation

Marth, G., Yu, F., Indap, A. R., Garimella, K. V., Gravel, S., Leong, W. F., Tyler‐Smith, C., Bainbridge, M. N., Blackwell, T. W., Zheng-Bradley, X., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-9-r84 · Cited by 193

From expression QTLs to personalized transcriptomics

Montgomery, S. B., & Dermitzakis, E. T. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2969 · Cited by 194

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite

Grünewald, T. G. P., Bernard, V., Gilardi‐Hebenstreit, P., Raynal, V., Surdez, D., Aynaud, M.-M., Mirabeau, O., Cidre‐Aranaz, F., Tirode, F., Zaïdi, S., et al. (2015) · Nature Genetics · doi:10.1038/ng.3363 · Cited by 200

Ancestry-specific recent effective population size in the Americas

Browning, S. R., Browning, B. L., Daviglus, M. L., Durazo-Arvizu, R. A., Schneiderman, N., Kaplan, R. C., & Laurie, C. C. (2018) · PLOS Genetics · doi:10.1371/journal.pgen.1007385 · Cited by 187

Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies

Kichaev, G., & Paşaniuc, B. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.007 · Cited by 188

Genome-wide evidence of Austronesian–Bantu admixture and cultural reversion in a hunter-gatherer group of Madagascar

Pierron, D., Razafindrazaka, H., Pagani, L., Ricaut, F., Antão, T., Capredon, M., Sambo, C., Radimilahy, C., Rakotoarisoa, J.-A., Blench, R. M., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1321860111 · Cited by 188

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Simeoni, I., Stephens, J. C., Hu, F., Deevi, S. V. V., Mégy, K., Bariana, T. K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M. J. A., et al. (2016) · Blood · doi:10.1182/blood-2015-12-688267 · Cited by 190

Improved ancestry inference using weights from external reference panels

Chen, C., Pollack, S. J., Hunter, D. J., Hirschhorn, J. N., Kraft, P. L., & Price, A. L. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt144 · Cited by 187

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.12.011 · Cited by 198

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Grozeva, D., Carss, K., Spasić-Bošković, O., Tejada, M., Gécz, J., Shaw, M. A., Corbett, M. A., Haan, E., Thompson, E. M., Friend, K. L., et al. (2015) · Human Mutation · doi:10.1002/humu.22901 · Cited by 192

Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas

Shankar, G. M., Abedalthagafi, M., Vaubel, R. A., Merrill, P. H., Nayyar, N., Gill, C. M., Brewster, R., Bi, W. L., Agarwalla, P. K., Thorner, A. R., et al. (2016) · Neuro-Oncology · doi:10.1093/neuonc/now235 · Cited by 184

Phenome-wide association studies across large population cohorts support drug target validation

Diogo, D., Tian, C., Franklin, C. S., Alanne-Kinnunen, M., March, M., Spencer, C. C. A., Vangjeli, C., Weale, M. E., Mattsson, H., Kilpeläinen, E., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06540-3 · Cited by 186

Genetic influences on hub connectivity of the human connectome

Arnatkevičiūtė, A., Fulcher, B., Oldham, S., Tiego, J., Paquola, C., Gerring, Z. F., Aquino, K. M., Hawi, Z., Johnson, B. P., Ball, G., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24306-2 · Cited by 187

Early Tumor–Immune Microenvironmental Remodeling and Response to First-Line Fluoropyrimidine and Platinum Chemotherapy in Advanced Gastric Cancer

Kim, R., An, M., Lee, H., Mehta, A., Heo, Y. J., Kim, K.-M., Lee, S.-Y., Moon, J., Kim, S. T., Min, B.-H., et al. (2021) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0888 · Cited by 181

Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load

McLaren, P. J., Coulonges, C., Bartha, I., Lenz, T. L., Deutsch, A. J., Bashirova, A. A., Buchbinder, S., Carrington, M. N., Cossarizza, A., Dalmau, J., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1514867112 · Cited by 185

Hidden heritability due to heterogeneity across seven populations

Tropf, F. C., Lee, S. H., Verweij, R. M., Stulp, G., van der Most, P. J., de Vlaming, R., Bakshi, A., Briley, D. A., Rahal, C., Hellpap, R., et al. (2017) · Nature Human Behaviour · doi:10.1038/s41562-017-0195-1 · Cited by 180

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

Wong, L.-P., Ong, R. T., Poh, W.-T., Liu, X., Chen, P., Li, R., Lam, K., Pillai, N. E., Sim, K. S., Xu, H., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.12.005 · Cited by 182

Revisiting the genome-wide significance threshold for common variant GWAS

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Genome-wide association study of ancestry-specific TB risk in the South African Coloured population

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