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The human pangenome reference reduces ancestry-related biases in somatic mutation detection

2026-04-01

Abstract excerpt

<h4>ABSTRACT</h4> Commonly used human reference genomes collapse extensive genetic variability into a single linear genome of which 70% is derived from one donor. These linear genomes fail to capture the full spectrum of genetic variation, which can lead to misalignment of sequencing reads particularly for individuals underrepresented by the linear reference genomes. To address this shortcoming, the Human Pangeno...

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Literature Corpus work
65049a62-5649-5093-841d-b7abfe48417d
DOI
10.64898/2026.03.30.715289
Open publication

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The human pangenome reference reduces ancestry-related biases in somatic mutation detectionDOI 10.64898/2026.03.30.715289
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