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
Causal disease effect sizes of proximal single-nucleotide polymorphisms (SNPs) are widely assumed to be independent but could be correlated. Here we introduce a new method, linkage disequilibrium SNP-pair effect correlation regression (LDSPEC), to estimate the correlation of causal disease effect sizes of derived alleles between proximal SNPs; LDSPEC produced robust estimates in simulations. Analyzing 70 UK Biobank diseases and traits (average N = 305,646), we detected significantly non-zero...
Journal article
CONCLUSION: Collectively, our data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene. Disruption of BHLHE22, through either dominant or recessive variants, results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.