Ran Cui

Functional dissection of complex and molecular trait variants at single nucleotide resolution

This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.

Interpreting variants associated with congenital heart disease with a regulatory map of the human fetal heart

This study creates a gene regulation map of the human fetal heart to interpret genetic variants associated with congenital heart disease and cardiac traits, identifying valvular interstitial cells as key regulators.

Improving fine-mapping by modeling infinitesimal effects

This paper introduces improved fine-mapping methods that model infinitesimal effects, showing better calibration and increased PRS accuracy for causal variant identification in complex traits.

Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

The paper uses supervised learning to fine-map cis-eQTLs, identifying 20,913 additional putative causal eQTLs and 310 candidate genes.

Significance testing for small annotations in stratified LD-Score regression

The paper shows that S-LDSC's significance testing fails for small annotations, leading to inflated type 1 error, and proposes thresholds to control this error.

Functionally-informed fine-mapping and polygenic localization of complex trait heritability

This paper introduces PolyFun, a method that improves fine-mapping accuracy by integrating genome-wide functional data, leading to more causal variant identifications and polygenic localization of trait heritability.