Faculty

Iain Mathieson, Ph.D.

Associate Professor of Genetics

Department: Genetics

Graduate Group Affiliations

Contact information

405A Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104-6145

Office: 215-573-1835

Email:
mathi@upenn.edu

Education:
BA (Mathematics)
Cambridge University, 2005.
MPhil (Statistical Science)
Cambridge University, 2006.
DPhil (Genomic Medicine & Statistics)
Oxford University, 2013.

Links
Lab website

Permanent link

> Perelman School of Medicine > Faculty > Details

Selected Publications

Ramos-Almodóvar F, Gao Z, Voight BF, Mathieson I.: Methylation-associated mutagenesis underlies variation in the mutation spectrum across eukaryotes. PNAS 123: e2516368123, Mar 2026.

Shi Z, Mandla R, Li J, Li X, Zhang ZE, Chen S, Lapinska S, Flynn-Carroll AO, Pasaniuc B, Epstein DJ, Mathieson I.: Genome-wide analysis implicates inner ear development in Ménière's disease. medRxiv (In revision, AJHG) Feb 2026.

Costantino M, Fonseca R, Liu Z, Huang Z, Sankararaman S, Mathieson I, Dahl A.: Choice of phenotype scale is critical in biobank-based G×E tests. bioRxiv (In revision, Cell Genomics) Jan 2026.

Colbran LL, Terhorst J, Mathieson I.: Global patterns of natural selection inferred using ancient DNA. bioRxiv (In review, Science) Jan 2026.

Mathieson I: Population Structure, history and Evolution. In: Vogel and Motulsky's Human Genetics (5th ed.). Morton C, Antonarakis S (eds.). Springer, To Appear 2026.

Flint J, Mathieson I: What's in the junk? London Review of Books 47(21), Nov 2025.

Cox SL, Kaymak-Loveless K, Shin C, Alihodžić T, Alt KW, Atanassova N, Binder D, Čaušević-Bully M, Chohadzhiev A, Chohadzhiev S, Duday H, Gaydarska B, Khudaverdyan A, Micó Perez R, Nicklisch N, Novak M, Oliart Caravatti C, Réveillas H, Rivollat M, Rottier S, Tončinić D, Zäuner S, Mathieson I: Effects of ancestry, agriculture, and lactase persistence on the stature of prehistoric Europeans. Current Biology 35(22): 5654-5665, Nov 2025.

Aw AJ, Mandla R, Shi Z; Penn Medicine Biobank; Pasaniuc B, Mathieson I.: Hidden structure in polygenic scores and the challenge of disentangling ancestry interactions in admixed populations. Genetics 231: iyaf213, Oct 2025.

Mathieson I.: Polygenic prediction of human complex traits using ancient DNA. Curr Opin Genet Dev 95: 102396, Aug 2025.

Mies G, Tsao NL, Houy A, Coupland SE, Kalirai H, Försti A, Hemminki K, Thomsen H, Stern MH, Shields CL, Damrauer SM, Ewens KG, Ganguly A, Mathieson I.: Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity. HGG Adv 6: 100465, Jul 2025.