Na Li

The paper identifies a missense variant in the XPF-like domain of SHOC1 that disrupts meiotic recombination and causes meiotic arrest by impairing DNA repair and chromatin structure.

This paper develops a machine learning model using LightGBM to predict high-risk SARS-CoV-2 variants based on haplotype network features, achieving high accuracy in identifying variants of concern and interest.

This study identifies Playrr, a lncRNA that regulates Pitx2 dosage and protects against cardiac arrhythmias by modulating cardiac gene expression and atrial substrate.

This study identifies molecular risk factors and mechanisms in idiopathic cerebral palsy through clinical and molecular analysis of 120 families.

EPIGENE identifies genome-wide transcription units using histone modifications, outperforming RNA-seq methods and discovering novel TUs supported by RNA Polymerase II data.

CRUP predicts condition-specific regulatory units by analyzing histone modification ChIP-seq data and linking enhancers to target genes in rheumatoid arthritis.

normR normalizes ChIP-seq data to improve enrichment calling in different histone modification regimes.