Author

Mark I 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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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:bulk RNA-seq· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:polygenic risk· 1

Frequent Co-Authors

Aarno V. PalotieiD· 1 shared Abril G. IzquierdoiD· 1 shared Alan Kwong· 1 shared Aliki‐Eleni FarmakiiD· 1 shared Alison E. JohniD· 1 shared Amit Joshi· 1 shared Amy Stockwell· 1 shared Andrea AngiusiD· 1 shared

Activity by Year

2015-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Aarno V. PalotieORCID

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Author profile →

4 papers

Recent·Most cited

Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis

Tamara Hernández-Beeftink, Lauren J. Donoghue, Abril G. Izquierdo, Samuel T Moss, Daniel Chin, Beatriz Guillén‐Guío, Konain Fatima Bhatti, Simon Cameron Biddie, Nick R. G. Shrine, Richard J. Packer, Ayodeji Adegunsoye, Helen Booth, CleanUP-IPF Investigators of the Pulmonary Trials Cooperative, William A. Fahy, Tasha E. Fingerlin, , Louise V. Wain

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

medRxiv · Feb 19, 2026 · PreprintGenetic & Genomic Medicine

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

Luke M. Evans, Rasool Tahmasbi, Matthew Jones, Scott I. Vrieze, Gonçalo R. Abecasis, Sayantan Das, Douglas W. Bjelland, Teresa R de Candia, David Altshuler, Carl A. Anderson, Andrea Angius, Jeffrey C. Barrett, Sonja I. Berndt, Michael Boehnke, Dorrett Boomsma, , George Davey Smith

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Heredity · Mar 28, 2018Peer-reviewedGenetics

Detection of human adaptation during the past 2,000 years

Yair Field, Evan A Boyle, Natalie Telis, Ziyue Gao, Kyle J Gaulton, David Golan, Loic Yengo, Ghislain Rocheleau, Philippe Froguel, Mark I McCarthy, Jonathan K Pritchard

This study detects recent human adaptation over the past 2,000 years using the Singleton Density Score, revealing selection signals for lactase, HLA, height, and other complex traits.

bioRxiv · May 7, 2016Genetics

Assessing allele specific expression across multiple tissues from RNA-seq read data

Matti Pirinen, Tuuli Lappalainen, Noah A Zaitlen, GTEx Consortium, Emmanouil T Dermitzakis, Peter Donnelly, Mark I McCarthy, Manuel A Rivas

The paper introduces a statistical method to analyze allele-specific expression across tissues and classifies variants based on their regulatory impact using RNA-seq data.

Bioinformatics · Mar 27, 2015Peer-reviewedBioinformatics