Author

Mark McCarthy

Genentech

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Aarno V. PalotieiD· 1 shared Abhiram S. Rao· 1 shared Adam E. Ziemann· 1 shared Adriana Huertas‐Vázquez· 1 shared Ali AbbasiiD· 1 shared Alsu M. MissarovaiD· 1 shared Alvaro BarbeiraiD· 1 shared Amy Stockwell· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aarno V. PalotieORCID

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Author profile →

3 papers

Recent·Most cited

scEPS integrates genetic and single-cell disease atlas data to provide granular mechanistic insights into complex human diseases

Luli Zou, Owen Whitley, Hsin-Wei Tseng, Caitlin M. A. Simopoulos, Diana Chang, Ruoyu Zhang, Amy Stockwell, Wuming Gong, Kipper Fletez‐Brant, Tawaun A. Lucas, Ephraim Kenigsberg, Alsu M. Missarova, David Garfield, Brian Yaspan, Mark McCarthy, , Huwenbo Shi

scEPS integrates GWAS and single-cell data to identify disease-associated cell neighborhoods by testing gene expression variance explained in disease contexts.

medRxiv · Jun 30, 2026 · PreprintGenetic & Genomic Medicine

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

Ville Salo, Juhani H. Määttä, Eeva Sliz, FinnGen, Aarno V. Palotie, Mark J. Daly, Bridget Riley-Gills, Howard J. Jacob, Dirk S. Paul, Slavé Petrovski, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, , Jukka T. Koskela

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

Nature Communications · Nov 7, 2024Peer-reviewedGenetic & Genomic Medicine

Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

Alvaro Barbeira, Rodrigo Bonazzola, Eric R. Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao T. Wang, Zhuoxun Jiang, Dan Zhou, Farhad Hormozdiari, Boxiang Liu, Abhiram S. Rao, Andrew R. Hamel, Milton Pividori, François Aguet, , 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.

Genome biology · Jan 26, 2021Peer-reviewedGenetics