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.
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.
Journal article
CONCLUSION: This similarity-based modeling framework distilled complex molecular and clinical data into concise, context-specific insights that augment clinician judgment, providing a foundation for a real-time learning, patient-centered decision support model in precision oncology.
Journal article
CONCLUSION: We describe the case of IDDAM caused by a paternally inherited CHD8 variant. Our findings highlight the importance of considering parental inheritance in IDDAM diagnoses and suggest epigenetic and structural biology analyses as valuable tools for reclassifying VUS when variant pathogenicity remains uncertain.