Article

Systematic Evaluation of Somatic Contamination in Germline Genomes

2025-08-25

Abstract excerpt

Large-scale genomic initiatives like the UK Biobank (UKB) have revolutionized our understanding of human disease. These studies typically assume that blood-derived DNA faithfully reflects an individual’s germline genome. However, this assumption is challenged by somatic mutations arising from processes like clonal hematopoiesis. Although standard bioinformatics pipelines employ variant allele frequency (VAF)-based...

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Literature Corpus work: 9f916f19-93ba-524f-89b6-c894e95aacd2
DOI: 10.1101/2025.08.21.671542

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