Nana Song

High-resolution mapping of DMD duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophy

This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.

Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

The paper interprets all possible single-nucleotide substitution variants in the GJB2 gene, classifies them by pathogenicity, and identifies genotype-phenotype correlations in hearing loss.

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

VIP-HL semi-automates ACMG/AMP variant interpretation for genetic hearing loss, achieving high concordance with expert panels and available as a web tool.

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach

This study uses a stepwise approach combining multiplex PCR and exome sequencing to diagnose 64% of non-syndromic hearing loss patients, identifying 59 molecular diagnoses from 92 unrelated cases.