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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

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

Published On 2025 May 26

Journal article

Purpose The Undiagnosed Diseases Network (UDN) is a National Institutes of Health funded research study that aims to solve a broad clinical spectrum of challenging rare disease cases. Participants receive care from multiple clinical specialists, who collaborate to perform deep phenotyping and state-of-the-art multi-omics analyses. As bioinformatics of short-read sequencing has matured, the discovery of repeat expansion disorders (REDs) is accelerating. REDs comprise ∼60 characterized disorders,...


De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Published On 2025 Feb 01

Journal article

CONCLUSION: Heterozygous de novo variants in RYBP are associated with an identifiable syndromic neurodevelopmental disorder with multiple congenital anomalies.