RaPID: ultra-fast powerful and accurate detection of segments identical by descent (IBD) in biobank-scale cohorts

摘要

While genetic relatedness, usually manifested as segments identical by descent (IBD), is ubiquitous in modern large biobanks, current IBD detection methods are not efficient at such a scale. Here, we describe an efficient method, RaPID, for detecting IBD segments in a panel with phased haplotypes. RaPID achieves a time and space complexity linear to the input size and the number of reported IBDs. With simulation, we showed that RaPID is orders of magnitude faster than existing method while offering competitive power and accuracy. In UK Biobank, RaPID identified 3,335,807 IBDs with a lenght ≥ 10 cM among 223,507 male X chromosomes in 11 min.Electronic supplementary materialThe online version of this article (10.1186/s13059-019-1754-8) contains supplementary material, which is available to authorized users.