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Supporting data for "Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts"

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DataCite Commons2025-05-26 更新2025-04-15 收录
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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 become available, direct comparison of these methods is difficult: existing benchmarks were often evaluated in different data sets, some are not openly accessible; methods benchmarked were run under sub-optimal parameters; 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.

提供机构:
GigaScience Database
创建时间:
2022-10-06
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