Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
Andrew R. Hamel, Wenjun Yan, John M. Rouhana…·Ayellet V. Segrè
Author
John M. Rouhana
Broad InstituteORCID 0000-0002-8599-0271Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2019-2024 · peak 4/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship7 papers
Recent·Most cited
- BioinformaticsbioRxivPreprint
ECLIPSER: identifying causal cell types and genes for complex traits through single cell enrichment of e/sQTL-mapped genes in GWAS loci
John M. Rouhana, Jiali Wang, Gökçen Eraslan…·Ayellet V. Segrè
ECLIPSER identifies causal cell types and genes for complex traits by integrating GWAS loci with single-cell RNA-seq data through e/sQTL mapping and enrichment analysis.
- GenomicsGenome biologyPeer-reviewed
A vast resource of allelic expression data spanning human tissues
Stephane E. Castel, François Aguet, Pejman Mohammadi…·Valentin Wucher
The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.
134 citationstop 1% - GeneticsSciencePeer-reviewed
Determinants of telomere length across human tissues
Kathryn Demanelis, Farzana Jasmine, Lin Chen…·Xiaoquan Wen
The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.
515 citationstop 1% - Systems BiologyCellPeer-reviewed
A Quantitative Proteome Map of the Human Body
Lihua Jiang, Meng Wang, Shin Lin…·Leslie H. Sobin
The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.
458 citationstop 1% - GeneticsbioRxivPreprint
A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease
Puya Gharahkhani, Eric Jorgenson, Pirro G. Hysi…·Janey L. Wiggs
15 citations - GeneticsbioRxivPreprint✦ In-depth digest
The GTEx Consortium atlas of genetic regulatory effects across human tissues
François Aguet, Alvaro Barbeira, Rodrigo Bonazzola…·Tuuli Lappalainen
GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.
366 citations