期刊
GENOME RESEARCH
卷 21, 期 5, 页码 768-774出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.115972.110
关键词
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资金
- National Institutes of Health [GM-59290]
- Sorenson Molecular Genealogy Foundation
- University of Luxembourg - Institute for Systems Biology
- Primary Children's Medical Center Foundation National Institute of Diabetes and Digestive and Kidney Diseases [DK069513]
- National Human Genome Research Institute, National Institutes of Health [K99HG005846]
- Huntsman Cancer Foundation
- Utah Population Database
- Utah Cancer Registry
- University of Utah
- Huntsman Cancer Institute
- NCI [N01-PC-35141]
- Utah State Department of Health
- [P01-CA073992]
- [R01-CA040641]
Accurate estimation of recent shared ancestry is important for genetics, evolution, medicine, conservation biology, and forensics. Established methods estimate kinship accurately for first-degree through third-degree relatives. We demonstrate that chromosomal segments shared by two individuals due to identity by descent (IBD) provide much additional information about shared ancestry. We developed a maximum-likelihood method for the estimation of recent shared ancestry (ERSA) from the number and lengths of IBD segments derived from high-density SNP or whole-genome sequence data. We used ERSA to estimate relationships from SNP genotypes in 169 individuals from three large, well-defined human pedigrees. ERSA is accurate to within one degree of relationship for 97% of first-degree through fifth-degree relatives and 80% of sixth-degree and seventh-degree relatives. We demonstrate that ERSA's statistical power approaches the maximum theoretical limit imposed by the fact that distant relatives frequently share no DNA through a common ancestor. ERSA greatly expands the range of relationships that can be estimated from genetic data and is implemented in a freely available software package.
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