Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.

ABSTRACT:

Background

High-throughput sequencing (HTS) offers unprecedented opportunities for the discovery of causative gene variants in multiple human disorders including cancers, and has revolutionized clinical diagnostics. However, despite more than a decade of use of HTS-based assays, extracting relevant functional information from whole-exome sequencing (WES) data remains challenging, especially for non-specialists lacking in-depth bioinformatic skills.

Results

To address this limitation, we developed Var∣Decrypt, a web-based tool designed to greatly facilitate WES data browsing and analysis. Var∣Decrypt offers a wide range of gene and variant filtering possibilities, clustering and enrichment tools, providing an efficient way to derive patient-specific functional information and

SUBMITTER: Salma M 

PROVIDER: S-EPMC10265870 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature