Rachid Karam

This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.

duoNovo identifies de novo variants from parent-proband duos using long-read sequencing, achieving high precision and low error rates in diagnostic evaluations.

This study evaluates breast cancer risks associated with pathogenic variant type and location in BRCA2 and other genes, finding differential risks based on variant position.

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.

The paper refines ACMG/AMP splicing variant classification codes using empirical evidence to improve consistency in variant pathogenicity classification.

This study uses high-throughput functional assays to reclassify variants of uncertain significance in Lynch Syndrome, improving variant interpretation and clinical outcomes.

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.