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
Andrew R. Hamel
Broad InstituteORCID 0000-0001-6420-9573Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2019-2024 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship5 shared papersGenetic & Genomic Medicine
Ayellet V. SegrèORCID
Mutual co-authors in cluster
6 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.
- GeneticsGenome biologyPeer-reviewed
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
Alvaro Barbeira, Rodrigo Bonazzola, Eric R. Gamazon…·Hae Kyung Im
The paper uses GTEx data to analyze GWAS loci, showing dose-dependent RNA effects and proposing target genes for 47% of loci using combined methods.
304 citationstop 1% - GenomicsSciencePeer-reviewed
Cell type specific genetic regulation of gene expression across human tissues
Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva…·Abhiram S. Rao
The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.
550 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✦ 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