Huijun Yuan

Helicobacter pylori genome aggregation database reveals complex evolutionary forces shaping its genomic landscape and clinical impact in East Asia

The paper introduces HPgnomAD, a global H. pylori genome database revealing evolutionary patterns and clinical implications in East Asia.

Frameshift variants in TBX2 underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus

The paper identifies TBX2 frameshift variants as the cause of autosomal-dominant hearing loss with incomplete nystagmus penetrance, validated through linkage analysis, sequencing, and mouse models.

Identification of mobile element insertion from whole genome sequencing data using deep neural network model

The paper introduces DeepMEI, a deep learning tool for identifying mobile element insertions from whole-genome sequencing data, finding it outperforms existing methods and discovers more non-reference MEIs in 1000 Genome Project samples.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

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.

Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

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