T-rex: standardized analysis of germline variants in whole-exome sequencing trios.

Abstract excerpt

Whole-exome sequencing (WES) enables the identification of rare germline variants contributing to pediatric diseases. Trio-based sequencing, comparing affected children with their parents, is particularly effective for rare disease genetics. However, WES data analysis requires bioinformatics expertise, varies across institutions, and is often incompatible with clinical workflows. We developed T-Rex (Trio Rare...

Topics

• Humans
• Exome Sequencing
• Germ-Line Mutation
• Software
• Computational Biology
• Child
• Polymorphism, Single Nucleotide