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Shamil Sunyaev

Ph.D.

Professor of Biomedical Informatics, Harvard Medical School

Professor of Medicine, Brigham and Women’s Hospital

Dr. Sunyaev is a computational genomicist and geneticist. Research in his lab encompasses many aspects of population genetic variation including the origin of mutations, the effect of allelic variants on molecular function, population and evolutionary genetics, and genetics of human complex and Mendelian traits. He developed several computational and statistical methods widely adopted by the community.

Dr. Sunyaev obtained a PhD in molecular biophysics from the Moscow Institute of Physics and Technology and completed his postdoctoral training in bioinformatics at the European Molecular Biology Laboratory (EMBL). He is an Associate Member at Broad Institute of MIT and Harvard. He co-leads the NHGRI-funded Genome Sequencing Program Analysis Center and is actively involved in the Undiagnosed Diseases Network and in the Brigham Genomic Medicine program. He also co-organizes the Boston Evolutionary Genomics Group.

Shamil Sunyaev

Ph.D.

Professor of Biomedical Informatics, Harvard Medical School

Professor of Medicine, Brigham and Women’s Hospital

Dr. Sunyaev is a computational genomicist and geneticist. Research in his lab encompasses many aspects of population genetic variation including the origin of mutations, the effect of allelic variants on molecular function, population and evolutionary genetics, and genetics of human complex and Mendelian traits. He developed several computational and statistical methods widely adopted by the community.

Dr. Sunyaev obtained a PhD in molecular biophysics from the Moscow Institute of Physics and Technology and completed his postdoctoral training in bioinformatics at the European Molecular Biology Laboratory (EMBL). He is an Associate Member at Broad Institute of MIT and Harvard. He co-leads the NHGRI-funded Genome Sequencing Program Analysis Center and is actively involved in the Undiagnosed Diseases Network and in the Brigham Genomic Medicine program. He also co-organizes the Boston Evolutionary Genomics Group.

Recent Publications

Farm animal evolution demonstrates hidden molecular basis of human traits

Published On 2026 Feb 12

Journal article

Most human variants identified by genome-wide association studies are believed to affect traits by altering gene expression. This belief is supported by considerable circumstantial evidence, but statistical methods are unable to link most trait-associated variants to gene expression-a problem we refer to as "missing regulation." Many explanations have been proposed, including the possibility that natural selection on gene expression limits power. Here, we take a novel approach to the question of...


Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association

Published On 2026 Feb 07

Journal article

CONCLUSIONS: Biallelic LAMP3 variants are associated with an interstitial lung disease phenotype with variable expressivity. Evaluation for LAMP3 variants should be considered in individuals with unexplained interstitial lung disease.