Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

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

The sequence of the human genome

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909

The Human Genome Browser at UCSC

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

A haplotype map of the human genome

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

Hitchhiking Under Positive Darwinian Selection

Fay, J. C., & Wu, C.-I. (2000) · Genetics · doi:10.1093/genetics/155.3.1405 · Cited by 1,819

A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome

Myers, S., Bottolo, L., Freeman, C., McVean, G., & Donnelly, P. (2005) · Science · doi:10.1126/science.1117196 · Cited by 1,134

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Chaisson, M. J. P., Sanders, A. D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08148-z · Cited by 891

Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia

Badner, J. A., & Gershon, E. S. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001012 · Cited by 811

Sex-specific genetic architecture of human disease

Ober, C., Loisel, D. A., & Gilad, Y. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2415 · Cited by 787

Haplotype blocks and linkage disequilibrium in the human genome

Wall, J. D., & Pritchard, J. K. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1123 · Cited by 642

An evolutionary view of human recombination

Coop, G., & Przeworski, M. (2007) · Nature Reviews Genetics · doi:10.1038/nrg1947 · Cited by 344

The landscape of human STR variation

Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project Consortium, Mittelman, D., & Erlich, Y. (2014) · Genome Research · doi:10.1101/gr.177774.114 · Cited by 283

A genomewide screen for autism susceptibility loci

Liu, J., Nyholt, D. R., Magnussen, P., Parano, E., Pavone, P., Geschwind, D., Lord, C., Iversen, P., Hoh, J., Autism Genetic Resource Exchange Consortium, T., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321980 · Cited by 309

Genome analyses of single human oocytes

Hou, Y., Fan, W., Yan, L., Li, R., Lian, Y., Huang, J., Li, J., Xu, L., Tang, F., Xie, X. S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.11.040 · Cited by 302

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors

Dannemann, M., Andrés, A. M., & Kelso, J. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.015 · Cited by 249

Heterogeneous dysregulation of microRNAs across the autism spectrum

Abu-Elneel, K., Liu, T., Gazzaniga, F. S., Nishimura, Y., Wall, D. P., Geschwind, D. H., Lao, K., & Kosik, K. S. (2008) · neurogenetics · doi:10.1007/s10048-008-0133-5 · Cited by 271

Calculation of Tajima’s D and other neutrality test statistics from low depth next-generation sequencing data

Korneliussen, T. S., Moltke, I., Albrechtsen, A., & Nielsen, R. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-289 · Cited by 269

Age-related macular degeneration–a genome scan in extended families

Majewski, J., Schultz, D. W., Weleber, R. G., Schain, M. B., Edwards, A. O., Matise, T. C., Acott, T. S., Ott, J., & Klein, M. L. (2003) · The American Journal of Human Genetics · doi:10.1086/377701 · Cited by 201

Sweet taste preferences are partly genetically determined: Identification of a trait locus on chromosome 16

Keskitalo, K., Knaapila, A., Kallela, M., Palotie, A., Wessman, M., Sammalisto, S., Peltonen, L., Tuorila, H., & Perola, M. (2007) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/86.1.55 · Cited by 195

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

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

Consistent long-range linkage disequilibrium generated by admixture in a Bantu-Semitic hybrid population.

Wilson, J. F., & Goldstein, D. B. (2000) · The American Journal of Human Genetics · doi:10.1086/303083 · Cited by 64

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12

Schmidt, S., Scott, W. K., Postel, E. A., Agarwal, A., Hauser, E. R., De La Paz, M. A., Gilbert, J. R., Weeks, D. E., Gorin, M. B., Haines, J. L., et al. (2004) · BMC Genetics · doi:10.1186/1471-2156-5-18 · Cited by 60

The Impact of Recessive Deleterious Variation on Signals of Adaptive Introgression in Human Populations

Zhang, X., Kim, B., Lohmueller, K. E., & Huerta-Sánchez, E. (2020) · Genetics · doi:10.1534/genetics.120.303081 · Cited by 35

PopHuman: the human population genomics browser

Casillas, S., Mulet, R., Villegas-Mirón, P., Hervas, S., Sanz, E., Velasco, D., Bertranpetit, J., Laayouni, H., & Barbadilla, A. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx943 · Cited by 29

Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families

Marchani, E. E., Bird, T. D., Steinbart, E. J., Rosenthal, E., Yu, C., Schellenberg, G. D., & Wijsman, E. M. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31072 · Cited by 29