Qiliang Ding

This study uses long-read sequencing to re-evaluate the pathogenicity of intragenic DMD duplications, finding that many are non-tandem and likely benign.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper profiles DNA replication timing in haploid and diploid human ESCs, identifying delayed replication in autosomal regions and linking it to X chromosome dosage and polyploid cell underreplication.

This study identifies genetic regulators of DNA replication timing in human pluripotent stem cells, revealing a histone code and combinatorial regulatory mechanisms.

This study identifies Denisovan introgressions in Papua New Guineans and Australians, finds they are under positive selection and related to important evolutionary functions, and proposes a method for detecting archaic hominin introgressions.