DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data.

ABSTRACT: Population screening for rare genetic diseases has the potential to increase early diagnosis and treatment, but the high cost of next-generation sequencing limits widespread implementation. Double-batched sequencing (DoBSeq) is a cost-effective method that uses two-dimensional overlapping pool sequencing to enable individual-level rare variant detection. However, the resulting high-depth, complex data require a specialized workflow for efficient, sensitive, and reproducible analysis. We developed DoBSeqWF (DoBSeq Workflow), a Nextflow-based pipeline that processes pooled sequencing data from alignment through variant calling, filtering, and final variant assignment. Using a childhood cancer cohort of 200 individuals with whole genome sequencing as a reference, we created training and valid

SUBMITTER: Cort Nielsen M 

PROVIDER: S-EPMC12907731 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature