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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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Published On 2026 Mar 30

Journal article

Small nuclear RNAs (snRNAs) are essential components of the spliceosome. De novo variants in snRNA genes RNU4-2 (ReNU syndrome), RNU5B-1 and RNU2-2 have been linked to dominant neurodevelopmental disorders (NDDs), revealing a large unexpected contribution of noncoding RNA genes to genetic diseases. Here, through international collaborations, we analyze systematically 200 potentially functional snRNA genes in a French cohort of 34,329 people with rare disorders. We report RNU2-2 variants in 141...


Incorporation of Clinical and Molecular Variant Properties Improves the Performance of in silico Pathogenicity Prediction Tools

Published On 2026 Mar 29

Journal article

CONCLUSION: Pathogenicity prediction tools should be evaluated using various variant subsets during development. Score threshold recalibration extends the range of evidence and improves overall pathogenicity probability estimation and classification.