LocalNgsRelate
LocalNgsRelate infers identity-by-descent (IBD) sharing along the genome between pairs of individuals from low-depth next-generation sequencing (NGS) data by using genotype likelihoods to account for genotype uncertainty.
Key Features:
- Probabilistic approach: Uses genotype likelihoods rather than called genotypes to incorporate uncertainty from low-depth NGS data.
- Improved accuracy: Demonstrated higher accuracy for IBD inference compared to genotype-based methods such as Albrechtsen et al. (2009) and hap-IBD.
- Low-depth performance: Operates effectively on NGS data with depths as low as 2×.
Scientific Applications:
- Population genetics: Detects shared ancestry and relatedness patterns in population-genetic studies using low-depth NGS.
- Ancestry inference: Identifies IBD segments to support inference of recent shared ancestry between individuals.
- Shared genomic segment discovery: Locates shared genomic segments (IBD tracts) among individuals from low-depth sequencing data.
Methodology:
Infers IBD sharing by leveraging genotype likelihoods to model and incorporate genotype-call uncertainty instead of relying on called genotypes.
Topics
Details
- License:
- GPL-3.0
- Cost:
- Free of charge
- Tool Type:
- command-line tool
- Operating Systems:
- Mac, Linux, Windows
- Programming Languages:
- C++
- Added:
- 4/26/2022
- Last Updated:
- 4/26/2022
Operations
Publications
Severson AL, Korneliussen TS, Moltke I. LocalNgsRelate: a software tool for inferring IBD sharing along the genome between pairs of individuals from low-depth NGS data. Bioinformatics. 2021;38(4):1159-1161. doi:10.1093/bioinformatics/btab732. PMID:34718411. PMCID:PMC8796377.
PMID: 34718411
PMCID: PMC8796377
Funding: - NSF Graduate Research Fellowship and the NIH: R01 HG005855
- European Research Council: ERC-2018-STG-804679