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A complete reference genome improves analysis of human genetic variation

2021-07-13

Abstract excerpt

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 Mbp of sequence, corrects thousands of structural errors, and unlocks the most complex regions of the human genome to clinical and functional study. Here we demonstrate how the new reference universally improves read mapping and variant calling for 3,202 and 17 globally diverse samples sequenced with short and long reads, respectiv...

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Literature Corpus work
d586bacf-5b31-5ae0-bdc5-485a9e3fe390
DOI
10.1101/2021.07.12.452063
Open publication

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A complete reference genome improves analysis of human genetic variationDOI 10.1101/2021.07.12.452063
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