Article

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants

2025-12-21

Abstract excerpt

1 <h4>Summary</h4> The T2T-CHM13v2.0 reference genome added previously uncharacterized genomic sequences and improved the accuracy of repetitive stretches compared to former human genome assemblies. By comprehensive allelic variation analysis and read mapping statistics from sequencing reads aligned to hg38 and T2T-CHM13 assemblies in samples encompassing different sequencing designs and ethnicity groups, we obse...

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Literature Corpus work: 913b8aad-5012-572e-8b6c-946085227d3f
DOI: 10.64898/2025.12.17.694618

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