John B. Harley

Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits

This study identifies 20 genome-wide significant loci associated with serum IgA levels and finds genetic correlations with various immune and metabolic traits.

Neptune: An environment for the delivery of genomic medicine

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

CRISPRa screen on a genetic risk locus shared by multiple autoimmune diseases identifies a dysfunctional enhancer that affects IRF8 expression through cooperative lncRNA and DNA methylation machinery

The paper identifies a dysfunctional enhancer linked to IRF8 expression through CRISPRa screening and shows its regulation by a lncRNA and DNA methylation.

SLE non-coding Genetic Risk Variant Determines the Epigenetic Dysfunction of an Immune Cell Specific Enhancer that Controls Disease-critical microRNA Expression

The paper identifies a non-coding genetic variant associated with SLE that regulates miR-146a expression through a cell-type specific enhancer.

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.