Rajarshi Ghosh

This paper adapts ACMG/AMP variant classification criteria for the non-protein-coding gene RMRP, resulting in a framework for classifying variants in cartilage-hair hypoplasia.

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

The paper develops ADmiRE to annotate miRNA variants in large population datasets, identifies highly constrained miRNAs, and provides conservation scores for future disease studies.

The paper evaluates in silico algorithms for ACMG/AMP variant classification, finding high-performing algorithms and combinations that improve concordance.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.