Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data
University of Washington Medical Center · University of Washington
Abstract
Segments of indentity-by-descent (IBD) detected from high-density genetic data are useful for many applications, including long-range phase determination, phasing family data, imputation, IBD mapping, and heritability analysis in founder populations. We present Refined IBD, a new method for IBD segment detection. Refined IBD achieves both computational efficiency and highly accurate IBD segment reporting by searching for IBD in two steps. The first step (identification) uses the GERMLINE algorithm to find shared haplotypes exceeding a length threshold. The second step (refinement) evaluates candidate segments with a probabilistic approach to assess the evidence for IBD. Like GERMLINE, Refined IBD allows for…
Citation impact
- FWCI
- 20.63
- Percentile
- 100%
- References
- 45
Authors
2Topics & keywords
- Identity by descent
- Imputation (statistics)
- Computer science
- Population
- Data mining
- Haplotype
- Linkage disequilibrium
- Genome-wide association study