Jia‐Hsin Huang

The paper evaluates somatic mutation detection methods across different sequencing and analysis pipelines to identify false negatives in drug-resistant mutations.

This paper evaluates the concordance of variant annotations from three tools on ClinVar variants, highlighting inconsistencies in pathogenicity interpretation.

The paper uses deep learning to predict splicing patterns from promoter-bound transcription factor binding sites in human tissues.

PGSbuilder provides a web platform for GWAS and PRS analysis, enabling medical professionals to assess genetic risk using variant annotations and multiple PRS methods.

This study evaluates variant calling pipelines for tumor whole exome sequencing, finding no single combination outperforms all variants and recommending merged and ensemble approaches.

The paper identifies and compares long non-coding RNAs in fire ant queens across two reproductive states, finding differentially expressed lncRNAs associated with gene regulation during reproductive transitions.