Article

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions

2026-02-20

Abstract excerpt

Structural variants (SVs) contribute substantially to genomic variation and disease, but detecting somatic SVs (sSVs) remains difficult due to reference bias, mosaicism, and enrichment in repetitive regions. Linear reference genomes, like GRCh38 and CHM13, do not fully capture individual genomic structure, which can obscure true somatic variation. Donor-specific assemblies (DSAs) generated from the same genome whe...

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Literature Corpus work: b00d3991-72d9-5925-a47d-2cd4dec04a5a
DOI: 10.64898/2026.02.20.707061

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