Chris J. Cotsapas

Regulatory landscape of Alzheimer's disease variants in human microglia

The paper identifies regulatory variants associated with Alzheimer's disease in human microglia using MPRA and highlights differences in variant activity between cell sources.

A single-cell genetic colocalization test improves power and resolves disease-mediating cell types

The paper introduces scJLIM, a cluster-free method for single-cell colocalization testing, improving power to link GWAS loci with gene expression changes in specific cell types.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

The Association between Endometriosis and Immunological diseases

This study investigates the genetic and phenotypic associations between endometriosis and 31 immunological diseases using UK Biobank data, finding significant genetic correlations and a causal link with rheumatoid arthritis.

Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

This paper uses pleiotropy to discover new genetic loci for OSA and provide biological hypotheses by combining colocalization tests with pleiotropy analysis.

The missing link between genetic association and regulatory function

The paper investigates the link between genetic associations and regulatory function, finding limited evidence that baseline gene expression explains GWAS associations.

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

Joint analysis reveals shared autoimmune disease associations and identifies common mechanisms

The paper improves genetic mapping resolution in autoimmune diseases by identifying shared alleles across multiple conditions and reveals widespread shared mechanisms.

Shared associations identify causal relationships between gene expression and immune cell phenotypes

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

OCHROdb: a comprehensive, quality checked database of open chromatin regions from sequencing data

The paper creates a quality-checked database of open chromatin regions from 828 DNase-I hypersensitive sequencing samples across 194 human cell types.

NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk

The paper replicates a previous claim of a low-frequency variant in NR1H3 being associated with multiple sclerosis but finds no evidence of association in a larger dataset.