The DOI matches its Crossref record; 72 of the 73 references it cites were found in a registry or an index.
The International HapMap Project
Open accessAbstract
The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Increasing availability of reference datasets cataloguing population genetic variation across diverse ethnic backgrounds has supported robust causal inference2,3,5,6.”
From A brief history of human disease genetics (2020) · cites this paper as [2]
In the citing paper
“Systematic efforts to characterize genome-wide patterns of genomic variation, initially through the HapMap Consortium2, proved catalytic, demonstrating that the allelic structure of the genome was segmented into haplotype blocks, each containing sets of correlated variants.”
From A brief history of human disease genetics (2020) · cites this paper as [2]
In the citing paper
“For the common variants that underlie the bulk of complex-disease risk, the resolution of association mapping is often limited by the haplotype structure of the human genome2–4.”
From A brief history of human disease genetics (2020) · cites this paper as [2]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Self-citationThe 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
Self-citationdbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Self-citationThe Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
Self-citationAssociation of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
Hugot, J.-P., Chamaillard, M., Zouali, H., Lesage, S., Cézard, J.-P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C. A., Gassull, M., et al. (2001) · Nature · doi:10.1038/35079107 · Cited by 5,591
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
Ogura, Y., Bonen, D. K., Inohara, N., Nicolae, D. L., Chen, F. F., Ramos, R., Britton, H., Moran, T., Karaliuskas, R., Duerr, R. H., et al. (2001) · Nature · doi:10.1038/35079114 · Cited by 5,030
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Self-citationThe History and Geography of Human Genes
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175
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
Self-citation
Flagged first, then by citations
1 of the 73 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 801–900 of 1,037
Esteras, C., Gómez, P., Monforte, A. J., Blanca, J., Vicente-Dólera, N., Roig, C., Nuez, F., & Belén Picó, M. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-80 · Cited by 100
Evidence of genetic variations associated with rotator cuff disease
Filho, G. D. R. M., Amaral, M. V. G., Rezende, E. H. M., Pitta, R. P., Vieira, T. C. D. S., Duarte, M. E. L., Vieira, A. R., & Casado, P. L. (2013) · Journal of Shoulder and Elbow Surgery · doi:10.1016/j.jse.2013.07.053 · Cited by 101
Wedenoja, J., Loukola, A., Tuulio‐Henriksson, A., Paunio, T., Ekelund, J., Silander, K., Varilo, T., Heikkila, K. V., Suvisaari, J., Partonen, T., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002047 · Cited by 102
H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data
Magi, A., Tattini, L., Palombo, F., Benelli, M., Gialluisi, A., Giusti, B., Abbate, R., Seri, M., Gensini, G. F., Romeo, G. C., et al. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu401 · Cited by 99
Holmans, P. (2010) · Advances in genetics · doi:10.1016/b978-0-12-380862-2.00007-2 · Cited by 101
Genome-Wide DNA Methylation Profiles Indicate CD8+ T Cell Hypermethylation in Multiple Sclerosis
Bos, S. D., Page, C. M., Andreassen, B. K., Elboudwarej, E., Gustavsen, M. W., Briggs, F. B. S., Quach, H., Leikfoss, I. S., Bjølgerud, A., Berge, T., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0117403 · Cited by 102
Zhou, W., Emery, S. B., Flasch, D. A., Wang, Y., Kwan, K. Y., Kidd, J. M., Moran, J. V., & Mills, R. E. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1173 · Cited by 98
Beyond race: towards a whole-genome perspective on human populations and genetic variation
Foster, M. W., & Sharp, R. R. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1452 · Cited by 101
Self-citationGenetic studies to identify genes underlying menopausal age
Kok, H. S., van Asselt, K. M., van der Schouw, Y. T., Peeters, P. H. M., & Wijmenga, C. (2005) · Human Reproduction Update · doi:10.1093/humupd/dmi024 · Cited by 99
Significant gene content variation characterizes the genomes of inbred mouse strainsPreprint
Cutler, G., Marshall, L. A., Chin, N., Baribault, H., & Kassner, P. D. (2007) · Genome Research · doi:10.1101/gr.6754607 · Cited by 100
Glucocorticoid receptor polymorphisms and haplotypes and their expression in health and disease
Koper, J. W., van Rossum, E. F. C., & van den Akker, E. L. T. (2014) · Steroids · doi:10.1016/j.steroids.2014.07.015 · Cited by 97
Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics
Scouarnec, S. L., & Gribble, S. M. (2011) · Heredity · doi:10.1038/hdy.2011.100 · Cited by 102
Challenges in human genetic diversity: demographic history and adaptation
Balaresque, P. L., Ballereau, S. J., & Jobling, M. A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm242 · Cited by 99
Strategies for processing and quality control of Illumina genotyping arrays
Zhao, S., Jing, W., Samuels, D. C., Sheng, Q., Shyr, Y., & Guo, Y. P. (2017) · Briefings in Bioinformatics · doi:10.1093/bib/bbx012 · Cited by 100
Genetics of polycystic ovary syndrome
Mykhalchenko, K., Lizneva, D., Trofimova, T., Walker, W., Сутурина, Л. В., Diamond, M. P., & Azziz, R. (2017) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2017.1340833 · Cited by 128
Kevenaar, M. E., Themmen, A. P. N., Rivadeneira, F., Uitterlinden, A. G., Laven, J. S. E., van Schoor, N. M., Lips, P. T. A. M., Pols, H. A. P., & Visser, J. A. (2007) · Human Reproduction · doi:10.1093/humrep/dem176 · Cited by 99
NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak
Lapointe, J., Tessier, J., Paquette, Y., Wallendorff, B., Coady, M. J., Pichette, V., & Bonnardeaux, A. (2006) · Kidney International · doi:10.1038/sj.ki.5000437 · Cited by 97
Statistical Issues Arising in the Women's Health Initiative
Prentice, R. L., Pettinger, M. B., & Anderson, G. L. (2005) · Biometrics · doi:10.1111/j.0006-341x.2005.454_1.x · Cited by 100
A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size
Quinlan, J., Lemire, M., Hudson, T. J., Qu, H., Benjamin, A., Roy, A., Pascuet, E., Goodyer, M., Raju, C., Zhang, Z., et al. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006101107 · Cited by 99
Self-citationGenomics in Sudden Cardiac Death
Arking, D. E., Chugh, S. S., Chakravarti, A., & Spooner, P. M. (2004) · Circulation Research · doi:10.1161/01.res.0000123861.16082.95 · Cited by 99
Self-citationFavorov, A. V., Andreewski, T. V., Sudomoina, M. A., Favorova, O. O., Parmigiani, G., & Ochs, M. F. (2005) · Genetics · doi:10.1534/genetics.105.048090 · Cited by 99
Data structures and compression algorithms for genomic sequence data
Brandon, M. C., Wallace, D. C., & Baldi, P. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp319 · Cited by 97
Arbelaez, J. D., Dwiyanti, M. S., Tandayu, E., Llantada, K., Jarana, A., Ignacio, J. C. I., Platten, J. D., Cobb, J. N., Rutkoski, J. E., Thomson, M. J., et al. (2019) · Rice · doi:10.1186/s12284-019-0311-0 · Cited by 106
An R Package for Analysis of Whole-Genome Association Studies
Clayton, D. G., & Leung, H.-T. (2007) · Human Heredity · doi:10.1159/000101422 · Cited by 101
Analysis of single‐locus tests to detect gene/disease associations
Roeder, K., Bacanu, S., Sonpar, V. A., Zhang, X. D., & Devlin, B. (2005) · Genetic Epidemiology · doi:10.1002/gepi.20050 · Cited by 97
Fornage, M., Lee, C. R., Doris, P. A., Bray, M. S., HEISS, G. M., Zeldin, D. C., & Boerwinkle, E. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi315 · Cited by 102
Van Der Deure, W. M., Appelhof, B. C., Peeters, R. P., Wiersinga, W. M., Wekking, E. M., Huyser, J., Schene, A. H., Tijssen, J. G. P., Hoogendijk, W. J. G., Visser, T. J., et al. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03267.x · Cited by 97
CLOCK is suggested to associate with comorbid alcohol use and depressive disorders
Sjoholm, L. K., Kovanen, L., Saarikoski, S. T., Schalling, M., & Lavebratt, C. (2010) · Journal of Circadian Rhythms · doi:10.1186/1740-3391-8-1 · Cited by 97
Pharmacogenetics of Drug-Induced QT Interval Prolongation: An Update
Niemeijer, M. N., van den Berg, M. E., Eijgelsheim, M., Rijnbeek, P. R., & Stricker, B. H. C. (2015) · Drug Safety · doi:10.1007/s40264-015-0316-6 · Cited by 97
BDNF Val66met polymorphism, white matter abnormalities and remission of geriatric depression
Alexopoulos, G. S., Glatt, C. E., Hoptman, M. J., Kanellopoulos, D., Murphy, C. F., Kelly, R. E., Morimoto, S. S., Lim, K. O., & Gunning, F. M. (2010) · Journal of Affective Disorders · doi:10.1016/j.jad.2010.02.115 · Cited by 101
Hoft, N. R., Corley, R. P., McQueen, M. B., Schlaepfer, I. R., Huizinga, D. H., & Ehringer, M. A. (2008) · Neuropsychopharmacology · doi:10.1038/npp.2008.122 · Cited by 97
Determinants of vitamin D status: focus on genetic variations
Berry, D. J., & Hyppönen, E. (2011) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0b013e328346d6ba · Cited by 97
Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits
Gamazon, E. R., Ziliak, D. M., Im, H. K., LaCroix, B. L., Park, D. S., Cox, N. J., & Huang, R. S. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.023 · Cited by 99
Immunogenetics of Spontaneous Control of HIV
Carrington, M. N., & Walker, B. D. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-062909-130018 · Cited by 98
Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe
Tříska, P., Chekanov, N., Степанов, В. А., Хуснутдинова, Э. К., Kumar, G. P. A., Akhmetova, V. R., Babalyan, K., Boulygina, E., Харьков, В. Н., Gubina, M. A., et al. (2017) · BMC Genetics · doi:10.1186/s12863-017-0578-3 · Cited by 99
Genetics of Proteasome Diseases
Gomes, A. V. (2013) · Scientifica · doi:10.1155/2013/637629 · Cited by 96
Knight, J. A., Skol, A. D., Shinde, A., Hastings, D., Walgren, R. A., Shao, J., Tennant, T. R., Banerjee, M., Allan, J. M., Beau, M. M. L., et al. (2009) · Blood · doi:10.1182/blood-2008-10-183244 · Cited by 97
Ribas, G., González‐Neira, A., Salas, A., Milne, R. L., Vega, A., Carracedo, B., González, E., Barroso, E., Fernández, L. P., Yankilevich, P., et al. (2005) · Human Genetics · doi:10.1007/s00439-005-0094-9 · Cited by 97
Krausz, C. G., & Cioppi, F. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65737-9 · Cited by 97
The genomics of schizophrenia: update and implications
Giusti‐Rodríguez, P., & Sullivan, P. F. (2013) · Journal of Clinical Investigation · doi:10.1172/jci66031 · Cited by 99
Unifying Candidate Gene and GWAS Approaches in Asthma
Michel, S., Liang, L., Depner, M., Klopp, N., Ruether, A., Kumar, A., Schedel, M., Vogelberg, C., von Mutius, E., Berg, A. V., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013894 · Cited by 98
Chen, Z., Tang, N. L. S., Cao, X.-B., Qiao, D., Yi, L., Cheng, J. C. Y., & Qiu, Y. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.203 · Cited by 96
Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Yip, L., Zaloumis, S. G., Irwin, D. L., Severi, G., Hopper, J. L., Giles, G. G., Harrap, S. B., Sinclair, R. D., & Ellis, J. A. (2009) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2009.09186.x · Cited by 96
Genetic Factors in Autoimmune Myasthenia Gravis
Giraud, M., Vandiedonck, C., & Garchon, H. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1405.027 · Cited by 101
Liu, M., Yang, Y.-L., Chang, Y.-C., Chiang, S.-H., Lin, S.-P., Han, L.-S., Qi, Y., Hsiao, K., & Liu, T.-T. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.81 · Cited by 96
Pharmacogenetics of Anti-Diabetes Drugs
DiStefano, J. K., & Watanabe, R. M. (2010) · Pharmaceuticals · doi:10.3390/ph3082610 · Cited by 96
Kim, H. L., Ratan, A., Perry, G. H., Montenegro, Á., Miller, W., & Schuster, S. C. (2014) · Nature Communications · doi:10.1038/ncomms6692 · Cited by 98
A comparison of humans and baboons suggests germline mutation rates do not track cell divisions
Wu, F. L., Strand, A. I., Cox, L. A., Ober, C., Wall, J. D., Moorjani, P., & Przeworski, M. (2020) · PLoS Biology · doi:10.1371/journal.pbio.3000838 · Cited by 91
Genome‐wide association studies of atopic dermatitis
Tamari, M., & Hirota, T. (2014) · The Journal of Dermatology · doi:10.1111/1346-8138.12321 · Cited by 95
Whole-Genome Genotyping on Bead Arrays
Gunderson, K. L. (2009) · Methods in molecular biology · doi:10.1007/978-1-59745-538-1_13 · Cited by 94
A 100K Genome-Wide Association Scan for Diabetes and Related Traits in the Framingham Heart Study
Florez, J. C., Manning, A. K., Dupuis, J., McAteer, J. B., Irenze, K., Gianniny, L., Mirel, D. B., Fox, C. S., Cupples, L. A., & Meigs, J. B. (2007) · Diabetes · doi:10.2337/db07-0451 · Cited by 95
The portability of tagSNPs across populations: A worldwide surveyPreprint
González‐Neira, A., 柯, 遐., Lao, Ó., Francesc, C., Navarro, A., Comas, D., Cann, H. M., Bumpstead, S., Ghori, J., Hunt, S., et al. (2006) · Genome Research · doi:10.1101/gr.4138406 · Cited by 94
Self-citationAre medical and nonmedical uses of large-scale genomic markers conflating genetics and 'race'?
Rotimi, C. N. (2004) · Nature Genetics · doi:10.1038/ng1439 · Cited by 95
Self-citationIron-Refractory Iron Deficiency Anemia (IRIDA)
Heeney, M. M., & Finberg, K. E. (2014) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2014.04.009 · Cited by 99
Okada, Y., Yamazaki, K., Umeno, J., Takahashi, A., Kumasaka, N., Ashikawa, K., Aoi, T., Takazoe, M., Matsui, T., Hirano, A., et al. (2011) · Gastroenterology · doi:10.1053/j.gastro.2011.05.048 · Cited by 94
Self-citationOytam, Y., Sobhanmanesh, F., Duesing, K., Bowden, J. C., Osmond-McLeod, M. J., & Ross, J. P. (2016) · BMC Bioinformatics · doi:10.1186/s12859-016-1212-5 · Cited by 94
Sziraki, A., Lu, Z., Lee, J., Banyai, G., Anderson, S., Abdulraouf, A., Metzner, E., Liao, A., Banfelder, J., Epstein, A., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01572-y · Cited by 92
von Otter, M., Landgren, S., Nilsson, S., Zetterberg, M., Celojevic, D., Bergström, P., Minthon, L., Bogdanović, N., Andreasen, N., Gustafson, D., et al. (2010) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2009.12.007 · Cited by 96
Consistency of genome-wide associations across major ancestral groups
Ntzani, E., Liberopoulos, G., Manolio, T. A., & Ioannidis, J. P. A. (2011) · Human Genetics · doi:10.1007/s00439-011-1124-4 · Cited by 91
The genetics of human autoimmune disease
Invernizzi, P., & Gershwin, M. E. (2009) · Journal of Autoimmunity · doi:10.1016/j.jaut.2009.07.008 · Cited by 97
Comprehensive Testing of Positionally Cloned Asthma Genes in Two Populations
Hersh, C. P., Raby, B. A., Soto-Quirós, M. E., Murphy, A., Ávila, L., Lasky-Su, J. A., Sylvia, J. S., Klanderman, B. J., Lange, C., Weiss, S. T., et al. (2007) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200704-592oc · Cited by 93
Copy Number Variation in the Human Genome and Its Implications for Cardiovascular Disease
Pollex, R. L., & Hegele, R. A. (2007) · Circulation · doi:10.1161/circulationaha.106.677591 · Cited by 98
Al‐Kateb, H., Boright, A. P., Mirea, L., Xie, X., Sutradhar, R., Mowjoodi, A., Bharaj, B., Liu, X., Bucksa, J. M., Arends, V. L., et al. (2007) · Diabetes · doi:10.2337/db07-1059 · Cited by 93
Self-citationBioMart: a data federation framework for large collaborative projects
Zhang, J., Haider, S. A., Baran, J., Cros, A., Guberman, J. M., Hsu, J. C., Liang, Y., Yao, L., & Kasprzyk, A. (2011) · Database · doi:10.1093/database/bar038 · Cited by 91
Ramos-López, O., Panduro, A., Martínez‐López, E., & Román, S. (2016) · Nutrients · doi:10.3390/nu8020101 · Cited by 93
Bioavailability of Fat-Soluble Vitamins and Phytochemicals in Humans: Effects of Genetic Variation
Borel, P., & Desmarchelier, C. (2018) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-082117-051628 · Cited by 95
Vergeer, M., Boekholdt, S. M., Sandhu, M. S., Ricketts, S. L., Wareham, N. J., Brown, M. J., Fairé, U. D., Leander, K., Gigante, B., Kavousi, M., et al. (2010) · Circulation · doi:10.1161/circulationaha.109.912519 · Cited by 94
Human monogenic disorders — a source of novel drug targets
Brinkman, R. R., Dubé, M., Rouleau, G. A., Orr, A. C., & Samuels, M. E. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1828 · Cited by 90
SORCS1: A Novel Human Type 2 Diabetes Susceptibility Gene Suggested by the Mouse
Goodarzi, M. O., Lehman, D. M., Taylor, K. D., Guo, X., Cui, J., Quiñones, M. J., Clee, S. M., Yandell, B. S., Blangero, J., Hsueh, W. A., et al. (2007) · Diabetes · doi:10.2337/db06-1677 · Cited by 89
Okada, Y., Takahashi, A., Ohmiya, H., Kumasaka, N., Kamatani, Y., Hosono, N., Tsunoda, T., Matsuda, K., Tanaka, T., Kubo, M., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq551 · Cited by 93
Self-citationBench-to-bedside review: understanding genetic predisposition to sepsis.
Villar, J., Maca‐Meyer, N., Pérez‐Méndez, L., & Flores, C. (2004) · Critical Care · doi:10.1186/cc2863 · Cited by 92
The mid p-value in exact tests for Hardy-Weinberg equilibrium
Graffelman, J., & Moreno, V. R. (2013) · Statistical Applications in Genetics and Molecular Biology · doi:10.1515/sagmb-2012-0039 · Cited by 91
Opportunities, resources, and techniques for implementing genomics in clinical care
Manolio, T. A., Rowley, R. K., Williams, M. S., Roden, D. M., Ginsburg, G. S., Bult, C. J., Chisholm, R. L., Deverka, P. A., McLeod, H. L., Mensah, G. A., et al. (2019) · The Lancet · doi:10.1016/s0140-6736(19)31140-7 · Cited by 105
Wrzeszczyński, K. O., Varadan, V., Byrnes, J., Lum, E., Kamalakaran, S., Levine, D. A., Dimitrova, N., Zhang, M. Q., & Lucito, R. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028503 · Cited by 89
Ansari, M., Sauty, G., Labuda, M., Gagné, V., Laverdière, C., Moghrabi, A., Sinnett, D., & Krajinović, M. (2009) · Blood · doi:10.1182/blood-2008-11-191098 · Cited by 92
Ancestry informative markers for fine-scale individual assignment to worldwide populations
Paschou, P., Lewis, J., Javed, A., & Petros Drineas, B. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2010.078212 · Cited by 94
Cheung, C. Y. Y., Tso, A. W. K., Cheung, B. M. Y., Xu, A., Ong, K. L., Fong, C. H.-Y., Wat, N. M. S., Janus, E. D., Sham, P. C., & Lam, K. S. L. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1465 · Cited by 93
Genetics of essential hypertension
Mein, C. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh078 · Cited by 92
Evidence for large inversion polymorphisms in the human genome from HapMap dataPreprint
Bansal, V., Bashir, A., & Bafna, V. (2006) · Genome Research · doi:10.1101/gr.5774507 · Cited by 92
Ethical and legal implications of whole genome and whole exome sequencing in African populations
Wright, G. E. B., Koornhof, P., Adeyemo, A., & Tiffin, N. (2013) · BMC Medical Ethics · doi:10.1186/1472-6939-14-21 · Cited by 91
Genome-Wide Association Studies in Nephrology Research
Köttgen, A. (2010) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2010.05.018 · Cited by 92
The Genetic Architecture of Intracerebral Hemorrhage
Rost, N. S., Greenberg, S. M., & Rosand, J. M. (2008) · Stroke · doi:10.1161/strokeaha.107.501650 · Cited by 93
Genomics of type 2 diabetes mellitus: implications for the clinician
Stolerman, E. S., & Florez, J. C. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.129 · Cited by 91
Yang, Q., Kathiresan, S., Lin, J., Tofler, G. H., & O’Donnell, C. J. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-s1-s12 · Cited by 91
Taylor, J., Tyekucheva, S., Zody, M. C., Chiaromonte, F., & Makova, K. D. (2005) · Molecular Biology and Evolution · doi:10.1093/molbev/msj060 · Cited by 91
TwoPaCo: an efficient algorithm to build the compacted de Bruijn graph from many complete genomes
Minkin, I., Pham, S., & Medvedev, P. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw609 · Cited by 91
Yamazaki, J., Jelı́nek, J., Lu, Y., Cesaroni, M., Madžo, J., Neumann, F., He, R. L., Taby, R. F., Vasanthakumar, A., Macrae, T. A., et al. (2015) · Cancer Research · doi:10.1158/0008-5472.can-14-0739 · Cited by 90
Patel, S. K., Wai, B., Ord, M., MacIsaac, R. J., Grant, S., Velkoska, E., Panagiotopoulos, S., Jerums, G., Srivastava, P., & Burrell, L. M. (2011) · American Journal of Hypertension · doi:10.1038/ajh.2011.188 · Cited by 89
Using bioinformatics to predict the functional impact of SNVs
Cline, M., & Karchin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq695 · Cited by 91
Goodarzi, M. O., Shah, N. A., Antoine, H. J., Pall, M., Guo, X., & Azziz, R. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0227 · Cited by 90
Sequence features in regions of weak and strong linkage disequilibriumPreprint
Smith, A. V., Thomas, D. J., Munro, H. M., & Abecasis, G. R. (2005) · Genome Research · doi:10.1101/gr.4421405 · Cited by 91
Self-citationHe, J., Shi, T., Zhu, M., Wang, M., Li, Q.-X., & Wei, Q.-Y. (2013) · International Journal of Cancer · doi:10.1002/ijc.28089 · Cited by 89
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk
Cheng, G., Tang, C. S.-M., Wong, E. H.-M., Cheng, W. W.-C., So, M., Miao, X., Zhang, R., Cui, L., Liu, X., Ngan, E., et al. (2013) · Journal of Hepatology · doi:10.1016/j.jhep.2013.07.021 · Cited by 86
Self-citationYao, S., Zirpoli, G., Bovbjerg, D. H., Jandorf, L. H., Hong, C. C., Zhao, H., Sucheston, L. E., Tang, L., Roberts, M., Ciupak, G. L., et al. (2012) · Breast Cancer Research · doi:10.1186/bcr3162 · Cited by 89
An Integrative Analysis of the Tumorigenic Role of TAZ in Human Non–Small Cell Lung Cancer
Noguchi, S. F., Saito, A., Horie, M., Mikami, Y., Suzuki, H. I., Morishita, Y., Ohshima, M., Abiko, Y., Mattsson, J. S. M., König, H., et al. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-3328 · Cited by 89
Fine-Scale Variation and Genetic Determinants of Alternative Splicing across Individuals
Coulombe‐Huntington, J., Lam, K. C. L., Dias, C., & Majewski, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000766 · Cited by 91
The ACE2 gene: its potential as a functional candidate for cardiovascular disease
Burrell, L. M., Harrap, S. B., Velkoska, E., & Patel, S. K. (2012) · Clinical Science · doi:10.1042/cs20120269 · Cited by 90
Integrating microRNAs into a system biology approach to acute lung injury
Zhou, T., Garcia, J. G. N., & Zhang, W. (2011) · Translational research · doi:10.1016/j.trsl.2011.01.010 · Cited by 88
Investigation of Inversion Polymorphisms in the Human Genome Using Principal Components Analysis
Ma, J., & Amos, C. I. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040224 · Cited by 90
Tompkins, R. G. (2015) · The Journal of Trauma: Injury, Infection, and Critical Care · doi:10.1097/ta.0000000000000568 · Cited by 89
Metadata
- Authors
- †The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., Huang, W., Liu, B., Shen, Y., Tam, P. K.-H., Tsui, L.-C., Waye, M. M. Y., Wong, J. T.-F., Zeng, C., Zhang, Q., Illumina, Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R., McGill University and Génome Québec Innovation Centre, Montpetit, A., Hudson, T. J., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., University of California at San Francisco and Washington University, Kwok, P.-Y., Duan, S., Lind, D. L., Miller, R. D., Rice, J. P., Saccone, N. L., Taillon-Miller, P., Xiao, M., University of Tokyo and RIKEN, Nakamura, Y., Sekine, A., Sorimachi, K., Tanaka, T., Tanaka, Y., Tsunoda, T., Yoshino, E., Wellcome Trust Sanger Institute, Bentley, D. R., Deloukas, P., Hunt, S., Powell, D., Whitehead Institute/MIT Center for Genome Research, Altshuler, D., Gabriel, S. B., Community engagement/public consultation and sample-collection groups: Beijing Normal University and Beijing Genomics Institute, Zhang, H., Zeng, C., Health Sciences University of Hokkaido, E. E. I. A. S. U., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Howard University and University of Ibadan, Rotimi, C. N., Adebamowo, C. A., Aniagwu, T., Marshall, P. A., Matthew, O., Nkwodimmah, C., Royal, C. D. M., University of Utah, Leppert, M. F., Dixon, M., Laboratory, A. G. C. S. H., Stein, L. D., Cunningham, F., Kanani, A., Thorisson, G. A., Johns Hopkins University School of Medicine, Chakravarti, A., Chen, P. E., Cutler, D. J., Kashuk, C. S., University of Oxford, Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., University of Oxford, W. T. C. F. H. G., Cardon, L. R., Abecasis, G. R., Morris, A., Weir, B. S., Health, U. N. I. O., Mullikin, J. C., Sherry, S. T., Feolo, M., Whitehead Institute/MIT Center for Genome Research, Altshuler, D., Daly, M. J., Schaffner, S. F., Ethical, L. A. S. I. C. A. O. S. S., Qiu, R., Genetic Interest Group, Kent, A., Howard University, Dunston, G. M., Kyoto University, Kato, K., Nagasaki University, Niikawa, N., University of Montréal, Knoppers, B. M., University of Oklahoma, Foster, M. W., Vanderbilt University, Clayton, E. W., Wang, V. O., Wellcome Trust, Watkin, J., SNP Discovery: Baylor College of Medicine, Gibbs, R. A., Belmont, J. W., Sodergren, E., Weinstock, G. M., Washington University, Wilson, R. K., Fulton, L. L., Wellcome Trust Sanger Institute, Rogers, J., Whitehead Institute/MIT Center for Genome Research, Birren, B. W., Scientific Management: Chinese Academy of Sciences, Han, H., Chinese Ministry of Science and Technology, Wang, H., Canada, G., Godbout, M., Wallenburg, J. C., Québec, G., L'Archevêque, P., Bellemare, G., Japanese Ministry of Education, C., Todani, K., Fujita, T., Tanaka, S., The SNP Consortium, Holden, A. L., Lai, E. H., Health, U. N. I. O., Collins, F. S., Brooks, L. D., McEwen, J. E., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Wellcome Trust, Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Initial Planning Groups: Populations and Ethical, L. A. S. I. G., Valle, D. L., Clayton, E. W., Jorde, L. B., Belmont, J. W., Chakravarti, A., Cho, M. K., Duster, T., Foster, M. W., Jasperse, M., Knoppers, B. M., Kwok, P.-Y., Licinio, J., Long, J. C., Marshall, P. A., Ossorio, P. N., Wang, V. O., Rotimi, C. N., Royal, C. D. M., Spallone, P., Terry, S. F., Methods Group, Lander, E. S., Lai, E. H., Nickerson, D. A., Abecasis, G. R., Altshuler, D., Bentley, D. R., Boehnke, M., Cardon, L. R., Daly, M. J., Deloukas, P., Douglas, J. A., Gabriel, S. B., Hudson, R. R., Hudson, T. J., Kruglyak, L., Kwok, P.-Y., Nakamura, Y., Nussbaum, R. L., Royal, C. D. M., Schaffner, S. F., Sherry, S. T., Stein, L. D., & Tanaka, T.
- Affiliations
- Baylor College of Medicine (US)
- Chinese Academy of Sciences (CN)
- Institute of Biomedical Sciences, Academia Sinica (TW)
- Chinese National Human Genome Center (CN)
- University of Hong Kong (HK)
- Chinese University of Hong Kong (HK)
- Illumina (United States) (US)
- McGill University and Génome Québec Innovation Centre (CA)
- Washington University in St. Louis (US)
- University of California, San Francisco (US)
- RIKEN (JP)
- Health Sciences University of Hokkaido (JP)
- Shinshu University (JP)
- Howard University (US)
- University of Ibadan (NG)
- University of Tsukuba (JP)
- Johns Hopkins University (US)
- University of Utah (US)
- Cold Spring Harbor Laboratory (US)
- North Carolina State University (US)
- Chinese Academy of Social Sciences (CN)
- Kyoto University (JP)
- University of Oxford (GB)
- Centre for Human Genetics (GB)
- National Institutes of Health (US)
- Genetic Alliance UK (United Kingdom) (GB)
- Nagasaki University (JP)
- Wellcome Trust (GB)
- University of Maryland, Baltimore (US)
- Wellcome Sanger Institute (GB)
- Massachusetts Institute of Technology (US)
- Vanderbilt University (US)
- Stanford University (US)
- Génome Québec (CA)
- University of New Mexico (US)
- Ministry of Education, Culture, Sports, Science and Technology (JP)
- University of Michigan (US)
- Foundation for the National Institutes of Health (US)
- University of Chicago (US)
- McGill University (CA)
- Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa (ZA)
- The University of Tokyo (JP)
- New York University (US)
- University of New Mexico Health Sciences Center (US)
- University of Wisconsin–Madison (US)
- Genetic Alliance (US)
- Fred Hutch Cancer Center (US)
- ORCID
- Yang, Huanming
- Huang, Wei
- Liu, Bin
- Tam, Paul Kwong-Hang
- Waye, Mary Miu Yee
- Wong, Jeffrey Tze-Fei
- Zhang, Qingrun
- Kruglyak, Semyon
- Murray, Sarah S.
- Ferretti, Vincent
- Duan, Shenghui
- Rice, John P.
- Saccone, Nancy L.
- Xiao, Ming
- Sekine, Akihiro
- Tsunoda, Tatsuhiko
- Hunt, Sarah
- Matsuda, Ichiro
- Fukushima, Yoshimitsu
- Macer, Darryl R.
- Adebamowo, Clement A.
- Aniagwu, Toyin
- Cunningham, Fiona
- Chen, Peter E.
- Cutler, David J.
- Donnelly, Peter
- Marchini, Jonathan
- Myers, Simon R.
- Morris, Andrew
- Weir, Bruce S.
- Mullikin, James C.
- Feolo, Michael
- Kent, Alastair
- Sodergren, Erica
- Weinstock, George M.
- Fulton, Lucinda L.
- Birren, Bruce W.
- Han, Hua
- Wang, Hongguang
- Tanaka, Satoshi
- Collins, Francis S.
- Dunn, Michael G.
- Valle, David L.
- Jorde, Lynn B.
- Cho, Mildred K.
- Duster, Troy
- Long, Jeffrey C.
- Ossorio, Pilar N.
- Terry, Sharon F.
- Lander, Eric S.
- Nickerson, Deborah A.
- Boehnke, Michael
- Douglas, Julie A.
- Kruglyak, Leonid
- Nussbaum, Robert L.
- Venue
- Nature
- Published
- 2003-12-18
- Volume
- 426
- Issue
- 6968
- Pages
- 789-796
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2058401000
- Cited by
- 6,057
- References
- 73
- Citations by year
- 2026: 43 · 2025: 117 · 2024: 143 · 2023: 141 · 2022: 163 · 2021: 166 · 2020: 161 · 2019: 199 · 2018: 179 · 2017: 247 · 2016: 293 · 2015: 320 · 2014: 347 · 2013: 336 · 2012: 378
- FWCI
- 134.60
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion, public-domain)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion, public-domain)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Funders
- W. M. Keck Foundation
- McGill University
- Genome Canada
- Wellcome Trust
- Ministry of Education, Culture, Sports, Science and Technology
- National Natural Science Foundation of China
- University Grants Committee
- Chinese Academy of Sciences
- Beijing Normal University
- Ministry of Science and Technology of the People's Republic of China
- Innovation and Technology Commission
- National Institutes of Health
- National Institute on Alcohol Abuse and Alcoholism
- National Institute on Aging
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Human Genome Research Institute
- National Eye Institute
- National Cancer Institute
- National Institute on Deafness and Other Communication Disorders
- National Institute of General Medical Sciences
- National Institute of Allergy and Infectious Diseases
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of Neurological Disorders and Stroke
- National Institute of Environmental Health Sciences
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- National Institute of Biomedical Imaging and Bioengineering
- National Institute of Dental and Craniofacial Research
- National Center for Research Resources
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- HapMap, human genome, DNA sequence variation, single nucleotide polymorphisms, genotype frequency, population genetic variation, common diseases, genetic association, diagnostic tools, therapeutic target
- MeSH terms
- Base Sequence, DNA, Gene Frequency, Haplotypes, Humans, International Cooperation, Genetic Variation, Genome, Human, Public Sector, Polymorphism, Single Nucleotide, Genomics, Racial Groups
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
