Bing Ge

This paper expands methylome analysis and detects quantitative trait loci by long-read sequencing of personal DNA, revealing tens of thousands of methylation QTLs associated with structural variants.

This study quantifies polygenic liability in rare disease probands and finds associations between rare disease phenotypes and polygenic scores, supporting complex trait influences on Mendelian variant interpretation.

The paper uses long-read whole genome sequencing and polygenic scores to identify structural variants linked to rare diseases and prioritize candidate genes for functional validation.

The paper identifies GSDMA as a gene in naive CD4+ T cells that modulates expression and methylation levels, driving the 17q12-21 asthma association.