Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - Nature …, 2022 - nature.com
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - BioRxiv, 2022 - biorxiv.org
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …

[HTML][HTML] A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2

TM Delorey, CGK Ziegler, G Heimberg, R Normand… - Biorxiv, 2021 - ncbi.nlm.nih.gov
The SARS-CoV-2 pandemic has caused over 1 million deaths globally, mostly due to acute
lung injury and acute respiratory distress syndrome, or direct complications resulting in …

Convergence of coronary artery disease genes onto endothelial cell programs

GR Schnitzler, H Kang, S Fang, RS Angom… - Nature, 2024 - nature.com
Linking variants from genome-wide association studies (GWAS) to underlying mechanisms
of disease remains a challenge,–. For some diseases, a successful strategy has been to …

Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - bioRxiv, 2021 - biorxiv.org
Genome-wide association studies (GWAS) provide a powerful means to identify loci and
genes contributing to disease, but in many cases the related cell types/states through which …

Mapping the convergence of genes for coronary artery disease onto endothelial cell programs

GR Schnitzler, H Kang, VS Lee-Kim, XR Ma, T Zeng… - bioRxiv, 2022 - biorxiv.org
Genome-wide association studies (GWAS) have discovered thousands of risk loci for
common, complex diseases, each of which could point to genes and gene programs that …

Integrative approaches to improve the informativeness of deep learning models for human complex diseases

KK Dey, SS Kim, S Gazal, J Nasser, JM Engreitz… - bioRxiv, 2020 - biorxiv.org
Deep learning models have achieved great success in predicting genome-wide regulatory
effects from DNA sequence, but recent work has reported that SNP annotations derived from …