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Definition And Clinical Importance Of Haplotypes.

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

DOI 10.1146/annurev.med.56.082103.104540

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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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“Since haplotypes are often more informative than individual SNPs [36], haplotype analysis was carried out.”
Background

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Authors: Crawford, D. C., & Nickerson, D. A.
Affiliations: University of Washington (US)
ORCID: Crawford, Dana C.
Nickerson, Deborah A.
Venue: Annual Review of Medicine
Publisher: Annual Reviews
Published: 2005-02-01
Volume: 56
Issue: 1
Pages: 303-320
ISSN: 0066-4219 (ISSN-L)
1545-326X
DOI: 10.1146/annurev.med.56.082103.104540
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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Definition And Clinical Importance Of Haplotypes.

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