期刊
HUMAN HEREDITY
卷 67, 期 4, 页码 248-266出版社
KARGER
DOI: 10.1159/000194978
关键词
Haplotype inference; Pedigree; Family data
资金
- NCI NIH HHS [U54 CA100949, CA100949] Funding Source: Medline
- NIDDK NIH HHS [P30 DK056336, P30DK056336] Funding Source: Medline
- NIEHS NIH HHS [ES09912, R01 ES009912] Funding Source: Medline
- NIGMS NIH HHS [R01 GM073766, R01 GM073766-01A2, GM073766] Funding Source: Medline
- NATIONAL CANCER INSTITUTE [U54CA100949] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [P30DK056336] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [R01ES009912] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM073766] Funding Source: NIH RePORTER
Haplotypes provide valuable information in the study of diseases, complex traits, population histories, and evolutionary genetics. With the dramatic increase in the number of available single nucleotide polymorphism (SNP) markers, haplotype inference (haplotyping) using observed genotype data has become an important component of genetic studies in general and of statistical gene mapping in particular. Existing haplotyping methods include (1) population-based methods, (2) methods for pooled DNA samples, and (3) methods for family and pedigree data. The methods and computer programs for population data and pooled DNA samples were reviewed recently in the literature. As several authors noted, family and pedigree datasets are abundant and have unique advantages. In the past twenty years, many haplotyping methods for family and pedigree data have been developed. Therefore, in this contribution we review haplotyping methods and the corresponding computer programs suitable for family and pedigree data and discuss their applications and limitations. We explore the connections among these methods, and describe the challenges that remain to be addressed. Copyright (C) 2009 S. Karger AG, Basel
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