Xin Gao

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

F. Alkuraya, Hiroyuki Kuwahara, Lama Alabdi, 2021, Genome medicine.

Deep learning identifies and quantifies recombination hotspot determinants

Yu Li, Hiroyuki Kuwahara, K. Yip, 2021, bioRxiv.

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

M. Temsah, F. Alkuraya, W. Newman, 2021, Genome Medicine.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

F. Alkuraya, Hiroyuki Kuwahara, Ramzan Umarov, 2020, Genome Biology.

S-leaping: an efficient downsampling method for large high-throughput sequencing data

Hiroyuki Kuwahara, Xin Gao, 2023, Bioinformatics.

Clinical utility of polygenic scores for cardiometabolic disease in Arabs

P. Ellinor, F. Alkuraya, A. Fahed, 2023, Nature communications.

Gene expression Sequence 2 Vec : a novel embedding approach for modeling transcription factor binding affinity landscape

Le Song, Yu Li, H. Dai, 2017 .