Ziyue Gao

This study shows that GC content differences at polymorphic sites across populations are shaped by demographic history, mutation bias, and GC-biased gene conversion, not by ongoing divergence or mutation pattern shifts.

The paper quantifies CpG mutation rates and methylation effects across sequence contexts using human polymorphisms, finding that methylation and flanking sequences interact to shape mutation rates.

The paper analyzes mutation spectra across 108 eukaryotic species, revealing cytosine transition mutability at CpG and CHG sites as key drivers of variation, with methylation levels not predicting mutation rates.

This study analyzes ancient DNA from 204 individuals to show stable population structure in Europe despite high mobility during the historical period.

This study analyzes ancient genomes from the Iron Age central Mediterranean to explore population continuity and mobility, finding significant local contributions and diverse non-local ancestries.

The paper maps stimulation-responsive chromatin changes in immune cells and identifies variants linked to autoimmunity.

The paper analyzes de novo mutations in three-generation CEPH families to show variability in mutation rates and identifies post-zygotic mosaicism as a source of de novo mutations.

The paper challenges the textbook view of germline mutations by showing that DNA damage and maternal age significantly contribute to mutation rates, with young fathers contributing more mutations than young mothers.

The paper measures selective constraint on human gene expression by analyzing copy number variants and allele-specific expression data, finding that singletons have larger effects but explain only 5% of cis-regulatory expression heritability.

The paper identifies frequent non-allelic gene conversion in human gene duplicates and estimates its parameters, showing it has a small average effect on sequence divergence.

The paper examines the frequencies of recessive lethal mutations in human populations and finds they are higher than expected, suggesting ascertainment bias rather than mutation-selection balance.

The paper examines the challenges in translating germline mutation rates from pedigrees to substitution rates, highlighting the need for detailed knowledge of mutation accumulation in development.