{"doi":"10.1146/annurev.med.56.082103.104540","title":"Definition and Clinical Importance of Haplotypes","abstract":"<jats:p>Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplotypes into their studies. Finally, we discuss the latest concepts for the analysis of haplotypes related to human disease, including haplotype blocks, the International HapMap Project, and the future directions of these resources.</jats:p>","journal":"Annual Review of Medicine","year":2005,"id":16275,"datarank":14.367640273707604,"base_score":5.840641657373398,"endowment":5.840641657373398,"self_citation_contribution":0.8760962486060099,"citation_network_contribution":13.491544025101595,"self_endowment_contribution":0.8760962486060099,"citer_contribution":13.491544025101595,"corpus_percentile":null,"corpus_rank":null,"citation_count":343,"citer_count":200,"citers_with_citation_signal":200,"citers_with_endowment":200,"datacite_reuse_total":4,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":24999,"name":"Deborah A. Nickerson","orcid":"0000-0002-9954-4897","position":1,"is_corresponding":false},{"id":21864,"name":"Dana C. Crawford","orcid":"0000-0002-6437-6248","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":5.840641657373398,"endowment":5.840641657373398,"datacite_reuse_total":4,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15660514","pmcid":null,"openalex_id":"https://openalex.org/W2112491025","authors":[],"funders":[{"funder_name":"NIEHS NIH HHS","grant_id":"ES15478","title":null},{"funder_name":"NHLBI NIH HHS","grant_id":"HL66682","title":null}],"total_grants":2,"fwci":12.5119,"citation_percentile":0.99086859,"influential_citations":11,"citation_trend":[{"year":2012,"count":25},{"year":2013,"count":18},{"year":2014,"count":17},{"year":2015,"count":19},{"year":2016,"count":16},{"year":2017,"count":11},{"year":2018,"count":9},{"year":2019,"count":8},{"year":2020,"count":9},{"year":2021,"count":12},{"year":2022,"count":12},{"year":2023,"count":9},{"year":2024,"count":11},{"year":2025,"count":2},{"year":2026,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://www.annualreviews.org/doi/pdf/10.1146/annurev.med.56.082103.104540","host_type":"publisher"},{"url":"https://doi.org/10.1146/annurev.med.56.082103.104540","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15660514","host_type":"repository"}],"fields_of_study":["Genetic Associations and Epidemiology","Genomics and Rare Diseases","RNA modifications and cancer","Biology","Medicine","Chromosome Mapping","Genetic Diseases, Inborn","Genetic Research","Genetic Variation","Genotype","Haplotypes","Humans","Linkage Disequilibrium","Mathematical Computing","Polymorphism, Single Nucleotide","Software"],"mesh_terms":["Chromosome Mapping","Genotype","Haplotypes","Humans","Mathematical Computing","Software","Genetic Variation","Linkage Disequilibrium","Polymorphism, Single Nucleotide","Genetic Diseases, Inborn","Genetic Research"],"keywords":["International HapMap Project","Haplotype","Haplotype estimation","Genotyping","Single-nucleotide polymorphism","Computational biology","Human genome","Genetic association","Biology","Human genetic variation","Genetics","Genotype","Gene","Genome"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Partnerships for the goals"}],"linked_datasets":[{"doi":"10.6084/m9.figshare.14411132.v1","title":"Additional file 1 of Vaspin in atherosclerotic disease and cardiovascular risk in axial spondyloarthritis: a genetic and serological study","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14411132","title":"Additional file 1 of Vaspin in atherosclerotic disease and cardiovascular risk in axial spondyloarthritis: a genetic and serological study","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.26650374","title":"Additional file 1 of Association of GAB1 gene with asthma susceptibility and the efficacy of inhaled corticosteroids in children","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.26650374.v1","title":"Additional file 1 of Association of GAB1 gene with asthma susceptibility and the efficacy of inhaled corticosteroids in children","publisher":"figshare","resource_type":"Dataset"}],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-01T21:11:04.391358Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}