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