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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

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

Published On 2022 Nov 09

Journal article

Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a multitude of coding and non-coding variants. They provide an unprecedented resource for illuminating the genetic basis of human diseases. Variant functional annotations play a critical role in WGS analysis, result interpretation, and prioritization of disease- or trait-associated causal variants. Existing functional annotation databases have limited scope to perform online queries and functionally annotate the...


A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Published On 2022 Oct 27

Journal article

Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV association. However, existing methods have limited ability in analyzing the noncoding genome. We propose a computationally efficient and robust noncoding RV association detection framework, STAARpipeline, to automatically annotate a whole-genome sequencing study and perform flexible noncoding...