Cited by 345Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic Mapping and Diversity in Plants and Animals

Definition And Clinical Importance Of Haplotypes.

Crawford, Dana C., Nickerson, Deborah A.·2005·Annual Review of Medicine

Abstract

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.

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Crossref · 10.1146/annurev.med.56.082103.104540

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Authors
Crawford, D. C., & Nickerson, D. A.
Affiliations
University of Washington (US)
Venue
Annual Review of Medicine
Published
2005-02-01
Volume
56
Issue
1
Pages
303-320
ISSN
  • 0066-4219 (ISSN-L)
  • 1545-326X
OpenAlex
W2112491025
Cited by
344
References
123
Citations by year
2026: 1 · 2025: 2 · 2024: 10 · 2023: 9 · 2022: 12 · 2021: 13 · 2020: 10 · 2019: 8 · 2018: 9 · 2017: 11 · 2016: 16 · 2015: 19 · 2014: 17 · 2013: 18 · 2012: 25
FWCI
2.58
Type
journal article
Language
en
Open access
closed
Locations
  • Annual Review of Medicine (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (n01es15478-9-0-0)
  • National Heart, Lung, and Blood Institute (HL 66682, U01HL066682)
  • National Institute of Environmental Health Sciences (ES15478)
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
haplotypes, single nucleotide polymorphisms, haplotype blocks, gene mapping, sequence variation, genetic association studies, haplotype analysis
MeSH terms
Chromosome Mapping, Genotype, Haplotypes, Humans, Mathematical Computing, Software, Genetic Variation, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genetic Diseases, Inborn, Genetic Research

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