BBS Faculty Member - Shamil Sunyaev

Shamil Sunyaev

Department of Biological Chemistry and Molecular Pharmacology

Harvard Medical School
New Research Building, Room 466C
77 Avenue Louis Pasteur
Boston, MA 02115
Tel: 617-525-4735
Fax: 617-525-4705
Visit my lab page here.

Data generated by the rapidly advancing DNA sequencing technology provide the complete picture of population genetic variation and sequence divergence between species. We have been focused on the analysis of systematic re-sequencing datasets with the goal to understand the origin of human mutations and their effect on molecular function, fitness and phenotype. We analyze data on human genetic variation in light of classic population genetics models, estimate parameters of demographic history and distribution of fitness effects of mutations in the human genome. We develop computational methods for predicting the effect of mutations and SNPs on function using comparative genomics, protein structure and functional genomics data. We further apply the knowledge gained to medical genetics studies in collaboration with medical genetics groups. The applications range from clinical genetic diagnostics to large-scale sequencing studies of well-phenotyped populations. Thus, evolutionary models, functional predictions and statistical methods for the analysis of complex phenotypes are intertwined in this research program.

Additionally, we are interested in development of computational and statistical approaches in proteomics and developmental biology.

Last Update: 8/22/2013


For a complete listing of publications click here.



Stamatoyannopoulos JA, Adzhubei I, Thurman RE, Kryukov GV, Mirkin SM, Sunyaev SR. Human mutation rate associated with DNA replication timing. Nature Genetics 2009 Apr;41(4):393-5.

Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR. Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3871-6.

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nature Methods. 2010 Apr;7(4):248-9.

Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet. 2010 Jun 11;86(6):832-8.

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