T-rex: standardized analysis of germline variants in whole-exome sequencing trios
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 in...
Sara-Luisa Reh, C. Walter, J. Lohse et al.
· Scientific Reports · 0 citations