[HTML][HTML] COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets

TM Delorey, CGK Ziegler, G Heimberg, R Normand… - Nature, 2021 - nature.com
COVID-19, which is caused by SARS-CoV-2, can result in acute respiratory distress
syndrome and multiple organ failure,,–, but little is known about its pathophysiology. Here …

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

MJ Zhang, K Hou, KK Dey, S Sakaue, KA Jagadeesh… - Nature …, 2022 - nature.com
Single-cell RNA sequencing (scRNA-seq) provides unique insights into the pathology and
cellular origin of disease. We introduce single-cell disease relevance score (scDRS), an …

[HTML][HTML] Redefining the hypotheses driving Parkinson's diseases research

SL Farrow, AA Cooper, JM O'Sullivan - NPJ Parkinson's disease, 2022 - nature.com
Parkinson's disease (PD) research has largely focused on the disease as a single entity
centred on the development of neuronal pathology within the central nervous system …

[HTML][HTML] Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes

AR Ringel, Q Szabo, AM Chiariello, K Chudzik… - Cell, 2022 - cell.com
Regulatory landscapes drive complex developmental gene expression, but it remains
unclear how their integrity is maintained when incorporating novel genes and functions …

[HTML][HTML] Exploring the genetic basis of coronary artery disease using functional genomics

ML Rodríguez, UT Arasu, MU Kaikkonen - Atherosclerosis, 2023 - Elsevier
Abstract Genome-wide Association Studies (GWAS) have identified more than 300 loci
associated with coronary artery disease (CAD), defining the genetic risk map of the disease …

[HTML][HTML] Mapping cis-regulatory elements in human neurons links psychiatric disease heritability and activity-regulated transcriptional programs

C Sanchez-Priego, R Hu, LL Boshans, M Lalli… - Cell reports, 2022 - cell.com
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
psychiatric diseases, yet there is a lack of understanding of disease pathophysiology …

Computational model for disease research

X Chen, L Huang - Briefings in Bioinformatics, 2023 - academic.oup.com
Computational analysis of vast public and private omics data [1–5] generated by high-
throughput technologies [6, 7] aids in deciphering complex mechanisms [8–11] and relevant …

[HTML][HTML] Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

AR Hamel, W Yan, JM Rouhana… - Nature …, 2024 - nature.com
Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a
leading cause of irreversible blindness worldwide. However, its molecular and cellular …