SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

ABSTRACT: Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require extensive back-and-forth with multiple tools and databases. This increases complexity and time burden, potentially resulting in missed genetic diagnoses. We present the Suite for CNV Interpretation and Prioritization (SCIP), a software package for the clinical interpretation of CNVs detected by whole-genome sequencing (WGS). The SCIP Visualization Module near-instantaneously displays all information necessary for CNV interpretation (variant quality, population frequency, inheritance pattern, and clinical relevance) on a single page-supported by modules providing variant filtration and prioritization. SCIP was comprehensively evaluated using WGS data

SUBMITTER: Ding Q 

PROVIDER: S-EPMC9918589 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature