Yun-Hua Esther Hsiao

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

The paper identifies allele-specific alternative splicing events across human tissues and develops a method to predict functional splicing-altering variants, finding many are linked to GWAS SNPs.

The paper introduces BEAPR, a computational method to detect allele-specific binding of RNA-binding proteins, showing it outperforms existing methods and identifies disease-relevant variants.

This study identifies widespread hypo-editing in ASD brains and links RNA editing dysregulation to Fragile X syndrome through FMRP/FXR1P-ADAR interactions.