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Biobank-scale inference of multi-individual identity by descent and gene conversion
We present a method for efficiently identifying clusters of identical-by-descent haplotypes in biobank-scale sequence data. Our multi-individual approach enables much more efficient collection and storage of identity by descent (IBD) information than approaches that detect and store pairwise IBD seg...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635131/ https://www.ncbi.nlm.nih.gov/pubmed/37961601 http://dx.doi.org/10.1101/2023.11.03.565574 |
Sumario: | We present a method for efficiently identifying clusters of identical-by-descent haplotypes in biobank-scale sequence data. Our multi-individual approach enables much more efficient collection and storage of identity by descent (IBD) information than approaches that detect and store pairwise IBD segments. Our method’s computation time, memory requirements, and output size scale linearly with the number of individuals in the dataset. We also present a method for using multi-individual IBD to detect alleles changed by gene conversion. Application of our methods to the autosomal sequence data for 125,361 White British individuals in the UK Biobank detects more than 9 million converted alleles. This is 2900 times more alleles changed by gene conversion than were detected in a previous analysis of familial data. We estimate that more than 250,000 sequenced probands and a much larger number of additional genomes from multi-generational family members would be required to find a similar number of alleles changed by gene conversion using a family-based approach. |
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