Dataset Information

Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts.

ABSTRACT: In the recent biobank era of genetics, the problem of identical-by-descent (IBD) segment detection received renewed interest, as IBD segments in large cohorts offer unprecedented opportunities in the study of population and genealogical history, as well as genetic association of long haplotypes. While a new generation of efficient methods for IBD segment detection becomes available, direct comparison of these methods is difficult: existing benchmarks were often evaluated in different datasets, with some not openly accessible; methods benchmarked were run under suboptimal parameters; and benchmark performance metrics were not defined consistently. Here, we developed a comprehensive and completely open-source evaluation of the power, accuracy, and resource consumption of these IBD segment detection methods using realistic population genetic simulations with various settings. Our results pave the road for fair evaluation of IBD segment detection methods and provide an practical guide for users.

SUBMITTER: Tang K

PROVIDER: S-EPMC9724555 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts.

Tang Kecong K Naseri Ardalan A Wei Yuan Y Zhang Shaojie S Zhi Degui D

GigaScience 20221201

In the recent biobank era of genetics, the problem of identical-by-descent (IBD) segment detection received renewed interest, as IBD segments in large cohorts offer unprecedented opportunities in the study of population and genealogical history, as well as genetic association of long haplotypes. While a new generation of efficient methods for IBD segment detection becomes available, direct comparison of these methods is difficult: existing benchmarks were often evaluated in different datasets, w ...[more]

PMID: 36472573

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Project description:BackgroundThe genealogical histories of individuals within populations are of interest to studies aiming both to uncover detailed pedigree information and overall quantitative population demographic histories. However, the analysis of quantitative details of individual genealogical histories has faced challenges from incomplete available pedigree records and an absence of objective and quantitative details in pedigree information. Although complete pedigree information for most individuals is difficult to track beyond a few generations, it is possible to describe a person's genealogical history using their genetic relatives revealed by identity by descent (IBD) segments-long genomic segments shared by two individuals within a population, which are identical due to inheritance from common ancestors. When modern biobanks collect genotype information for a significant fraction of a population, dense genetic connections of a person can be traced using such IBD segments, offering opportunities to characterize individuals in the context of the underlying populations. Here, we conducted an individual-centric analysis of IBD segments among the UK Biobank participants that represent 0.7% of the UK population.ResultsWe made a high-quality call set of IBD segments over 5 cM among all 500,000 UK Biobank participants. On average, one UK individual shares IBD segments with 14,000 UK Biobank participants, which we refer to as "relatives." Using these segments, approximately 80% of a person's genome can be imputed. We subsequently propose genealogical descriptors based on the genetic connections of relative cohorts of individuals sharing at least one IBD segment and show that such descriptors offer important information about one's genetic makeup, personal genealogical history, and social behavior. Through analysis of relative counts sharing segments at different lengths, we identified a group, potentially British Jews, who has a distinct pattern of familial expansion history. Finally, using the enrichment of relatives in one's neighborhood, we identified regional variations of personal preference favoring living closer to one's extended families.ConclusionsOur analysis revealed genetic makeup, personal genealogical history, and social behaviors at the population scale, opening possibilities for further studies of individual's genetic connections in biobank data.

Dataset Information

Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts.

Publications

Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts.

Similar Datasets

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