Hankui Liu

The paper develops methods for analyzing low-depth NIPT sequencing data to accurately estimate allele frequencies and genetic effect sizes, enabling population genetic studies.

This study identifies 13 novel genetic associations and confirms 17 existing ones between SNPs and neonatal metabolites using genome-wide association analysis of maternal low-pass genomes.

The paper identifies three causative genes for childhood epileptic encephalopathies through trio-based whole-exome sequencing and individualized analysis of genetic variants.

This paper introduces a phenotype-specific framework to identify causative nonsynonymous variants in eye abnormalities, achieving high accuracy and precision in pathogenicity prediction.

This study uses a random forest algorithm to predict gene pathogenicity for Mendelian diseases, achieving 80% accuracy and identifying 10,399 protein-coding genes as potential Mendelian disease genes.