Article

Leveraging Human Pangenome for Improved Somatic Variant Detection

2026-01-04

Abstract excerpt

Somatic variant detection is technically challenging due to low variant allele fractions, the confounding presence of germline variation, and reference bias. Linear references such as GRCh38 miss sample-specific variation, causing misalignments and incorrect variant calls. Although telomere-to-telomere donor-specific assemblies (DSAs) accurately represent individual genomes, their application is limited by cost an...

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Literature Corpus work: a98b38d1-5e79-5bff-b252-72671359fdeb
DOI: 10.64898/2026.01.04.697580

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