Claire Bardel

SAMI detects aberrant splicing events in short-read RNA-seq by focusing on non-recurring events in low-dimension data using a UMI-aware pipeline.

KILDA identifies KIV-2 repeats and Lp(a)-affecting variants from kmers, achieving results comparable to DRAGEN-LPA on the 1000 Genomes Project.

The paper investigates the association between transposable element expression and Y chromosome number in humans, suggesting a toxic Y effect on male longevity.

This study evaluates targeted RNA sequencing for detecting fusion transcripts, mutations, and expression in hematological malignancies, finding it effective for diagnosing leukemia subtypes and identifying most DNA mutations at the mRNA level.

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.