Shaohua Fan

This study reanalyzes exome sequencing data from Chinese CAKUT patients to identify four novel candidate genes associated with kidney and urinary tract anomalies.

The paper identifies a bear-specific coding exon in TMEM41B linked to cold adaptation through comparative genomics and functional analysis.

The paper identifies novel structural variants in Han Chinese genomes using long-read sequencing and links them to phenotypic diversity and disease susceptibility.

The paper identifies a human-specific mutation linked to height and basal metabolic rate, showing its evolutionary timing and functional impact through dietary changes.

The paper uses long-read sequencing to analyze genetic polymorphisms in 370 medically relevant genes across 41 individuals from 19 populations, identifying CNVs and variants missed by short-read sequencing.