Charu Deshpande

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.