Jun Shen

AnFiSA is an open-source platform for analyzing sequencing data in rare genetic disease, addressing reproducibility, adaptability, and explainability in genomic analysis.

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

This study shows that adding genetic screening to newborn hearing tests in China improves detection and reduces loss-to-follow-up, with significant benefits for identifying preventable hearing loss.

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.