Human population and statistical genetics

I am an Instructor in Investigation at the Analytic & Translational Genetics Unit in Massachusetts General Hospital as well as the Stanley Center for Psychiatric Research at the Broad Institute. As a population and statistical geneticist, my research investigates how human history shapes global genetic and phenotypic diversity, and the role these forces play in predisposing people to various complex disease risks and evolutionarily important traits. I am also particularly interested in statistical approaches and increasingly diverse studies to reduce health disparities induced by vast Eurocentric genetic study biases.

Research Areas

Latest news

Our preprint on genetic inference into population histories in the US from >32,000 individuals is on bioRxiv!


Human evolution, statistical genetics, and complex traits

Human evolution and fine-scale population history

Large-scale genomic studies in diverse populations

Genetic architecture comparisons of complex traits and diseases across diverse populations


See Google scholar page for complete list, here for full CV

  • J Grove, S Ripke, TD Als, M Mattheisen, R Walters, H Won, et al. (2019). Common risk variants identified in autism spectrum disorder. Nature Genetics
  • Palk, A.C., Dalvie, S., de Vries, J., Martin, A.R., Stein, D.J. (2019) Potential use of clinical polygenic risk scores in psychiatry–ethical implications and communicating high polygenic risk. Philosophy, Ethics, and the Humanities in Medicine.
  • Stevenson, A., Akena, D., Stroud, R.E., Atwoli, L., Campbell, M.M., Chibnik, L.B., et al. (2019) Neuropsychiatric Genetics of African Populations-Psychosis (NeuroGAP-Psychosis): a case-control study protocol and GWAS in Ethiopia, Kenya, South Africa and Uganda. BMJ Open 9, e025469–9
  • Quillen, E. E. et al. (2018). Shades of complexity: New perspectives on the evolution and genetic architecture of human skin. Am. J. Phys. Anthropol. 69, 167–23
  • Martin, A.R., Daly, M.J., Robinson, E.B., Hyman, S.E., Neale, B.M. (2018) Predicting polygenic risk of psychiatric disorders. Biological Psychiatry.
  • Lin, M., Siford*, R.L, Martin*, A.R., Nakagome, S., Moller, M., Hoal, E.G., Bustamante, C.D., Gignoux, C.R., Henn, B.M. (2018). Rapid evolution of a skin-lightening allele in southern African KhoeSan. Proceedings of the National Academy of Sciences 115, 13324–13329
  • Martin, A. R., Teferra, S., Möller, M., Hoal, E. G. & Daly, M. J. The critical needs and challenges for genetic architecture studies in Africa. Current Opinion in Genetics & Development 53, 113–120 (2018).
  • Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, et al. (2018). Discovery of the first genome-wide significant risk loci for ADHD. Nature Genetics 51, 63–75
  • GL Wojcik, C Fuchsberger, D Taliun, R Welch, AR Martin, S Shringarpure, et al. (2018). Imputation aware tag SNP selection to improve power for multi-ethnic association studies. G3: Genes, Genomes, Genetics 8 (10), 3255-3267
  • Ganna, A., Satterstrom, F.K., Zekavat, S.M., Das, I., Kurki, M.I., Churchhouse, C., Alfoldi, J., Martin, A.R., Havulinna, A.S., Byrnes, A., et al. (2018). Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am. J. Hum. Genet. 102, 1204–1211.
  • Martin, A.R., Lin, M., Granka, J.M., Myrick, J.W., Liu, X., Sockell, A., Atkinson, E.G., Werely, C.J., Möller, M., Sandhu, M.S., et al. (2017). An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. Cell 171, 1340–1353.e14. [Online] [In the media] [Related popular press]
  • Martin, A.R., Karczewski, K.J., Kerminen, S., Kurki, M., Sarin, A.-P., Artomov, M., Eriksson, J.G., Esko, T., Genovese, G., Havulinna, A.S., et al. (2018). Haplotype sharing provides insights into fine-scale population history and disease in Finland. AJHG. 102, 760–775. [Online]
  • Kerminen, S., Havulinna, A.S., Hellenthal, G., Martin, A.R., Sarin, A.-P., Perola, M., Palotie, A., Salomaa, V., Daly, M.J., Ripatti, S., et al. (2017). Fine-Scale Genetic Structure in Finland. G3 7, 3459–3468. [Online] [In the News]
  • Martin, A. R., Gignoux, C. R., Walters, R., Wojcik, G. L., Gravel, S., Daly, M. J., Bustamante, C. D., Kenny, E. E. (2017). Human demographic history impacts genetic risk prediction across diverse populations. American Journal of Human Genetics. 100, 635-649. [Featured article] [Cotterman Award]
  • Duncan, L. E., Ratanatharathorn, A., Aiello, A. E., Almli, L. M., Amstadter, A. B., Ashley-Koch, A. E., et al. (2017). Largest GWAS of PTSD (N=20,070) Yields Genetic Overlap with Schizophrenia and Sex Differences in Heritability. Molecular Psychiatry. [Online]
  • Uren, C., Kim, M., Martin, A. R., Granka, J. M., Werely, C. J., Kidd, J. M., Bobo, D., Gignoux, C. R., Behr, A., Ramachandran, S., van Helden, P., Möller, M., Hoal, E. G., Henn, B. M. (2016). Fine-scale population structure in southern Africa reflects ecological boundaries. Genetics. 204, 303-314. [Online]
  • Henn, B. M.*, Botigué, L. R.*, Peishl, S.*, Dupanloup, I., Lipatov, M., Maples, B. K., Martin, A. R., Musharoff, S., Yee, MC, Cann, H. M., Snyder, M., Excoffier, L., Kidd, J. M., Bustamante, C. D. (2016). Distance from Sub-Saharan Africa Predicts Mutational Load in Diverse Human Genomes. PNAS. 113, E440-E449. [Online]
  • The 1000 Genomes Project Consortium. (2015). A global reference for human genetic variation. Nature. 526. 68-74. [Online] [In the news]
  • Grubert, F.*, Zaugg, J. B.*, Kasowski, M.*, Ursu, O.*, Spacek, D. V., Martin, A. R., et al. (2015). Genetic Control of Chromatin States and Gene Expression in Humans Involves Local and Distal Chromosomal Interactions. Cell. 162, 1051-1065. [Online] [In the news]
  • Martin, A. R.*, Costa, H. A.*, Lappalainen, T., Henn, B. M., Kidd, J. M., Yee, M. C., Grubert, F., Cann, H.M., Snyder, M., Montgomery, S. B., Bustamante, C.D. (2014). Transcriptome Sequencing from Diverse Human Populations Reveals Differentiated Regulatory Architecture. PLoS Genetics. 10, e1004549. [Online] [In the news]
  • Martin, A.R., Tse, G., Bustamante, C. D., Kenny, E. E. (2014). Imputation-based Assessment of Next Generation Rare Exome Variant Arrays. Pacific Symposium for Biocomputing. 241-252. [Online]
  • Kidd, J. M.*, Sharpton, T. J.*, Bobo, D., Norman, P. J., Martin, A. R., Carpenter, M. L., et al. (2014). Exome Capture from Saliva Produces High Quality Genomic and Metagenomic Data. BMC Genomics. 15, 262. [Online] [In the news]
  • Karczewski, K. J., Fernald, G. H., Martin, A. R., Snyder, M., Tatonetti, N. P., Dudley, J. T. (2014). STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud. PLoS One. 9, e84860. [Online]



Alicia Martin

Analytic and Translational Genetics Unit
Massachusetts General Hospital
Richard B. Simches Research Center
185 Cambridge Street, CPZN-6818
Boston, MA 02114