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A T2T-CHM13 recombination map and globally diverse haplotype reference panel improves phasing and imputation

2025-02-28

Abstract excerpt

<h4>Summary</h4> The T2T-CHM13 complete human reference genome contains ∼200 Mb of previously unresolved sequence, improving read mapping and variant calling compared to GRCh38. However, the benefits of using complete reference genomes for phasing and imputation are unclear. Here, we present a reference T2T-CHM13 recombination map and phased haplotype panel derived from 3,202 samples from the 1000 Genomes Project...

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Literature Corpus work
ee081295-7d37-596a-a66b-b9cbafea482f
DOI
10.1101/2025.02.24.639687
Open publication

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A T2T-CHM13 recombination map and globally diverse haplotype reference panel improves phasing and imputationDOI 10.1101/2025.02.24.639687
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