DEVOUR

DEVOUR identifies low-coverage regions in whole-exome sequencing (WES) read alignments and annotates known variants within those regions to reveal clinically relevant deleterious variants missed by insufficient read depth.

Key Features:

• Identification of Low-Coverage Regions: Scans WES read alignments to pinpoint genomic intervals with no or low coverage, defined as having a read depth of less than 5.
• Annotation of Known Variants: Annotates known variants within identified low-coverage regions using clinical variant annotation databases.
• Clinical Relevance: Detects deleterious variants in uncovered regions and associates them with patient clinical phenotypes to support diagnostic interpretation.

Scientific Applications:

• Hirschsprung disease WES analysis (NCBI Bioproject PRJEB19327): Identified 98 potential disease-associated variants within low-coverage regions across 28 samples.

Methodology:

Scans WES read alignments to detect genomic regions with insufficient coverage and then annotates those regions using established clinical variant databases.