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Author Details

Shamil R Sunyaev
Harvard Medical School
1997
157
69
Nathan Sheffield (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
38096369Low-frequency inherited complement receptor variants are associated with purpura fulminans.Blood2024
38096369Low-frequency inherited complement receptor variants are associated with purpura fulminans.Blood2024
36350676FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic Acids Res2023
36032980Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations.medRxiv2023
36350676FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic Acids Res2023
38036792A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.Nat Genet2023
36967220Recurrent mutation in the ancestry of a rare variant.Genetics2023
37205491The landscape of tolerated genetic variation in humans and primates.bioRxiv2023
37262156The landscape of tolerated genetic variation in humans and primates.Science2023
36914796Revisiting mutagenesis at non-B DNA motifs in the human genome.Nat Struct Mol Biol2023
38036792A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.Nat Genet2023
37205491The landscape of tolerated genetic variation in humans and primates.bioRxiv2023
36967220Recurrent mutation in the ancestry of a rare variant.Genetics2023
37262156The landscape of tolerated genetic variation in humans and primates.Science2023
36914796Revisiting mutagenesis at non-B DNA motifs in the human genome.Nat Struct Mol Biol2023
36032980Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations.medRxiv2023
35032432StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.Am J Hum Genet2022
35389777Genome-wide analysis of somatic noncoding mutation patterns in cancer.Science2022
35688132The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability.Cell2022
36515579The missing link between genetic association and regulatory function.Elife2022
35032432StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.Am J Hum Genet2022
34951958Overcoming constraints on the detection of recessive selection in human genes from population frequency data.Am J Hum Genet2022
35389777Genome-wide analysis of somatic noncoding mutation patterns in cancer.Science2022
35688132The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability.Cell2022
36515579The missing link between genetic association and regulatory function.Elife2022
34951958Overcoming constraints on the detection of recessive selection in human genes from population frequency data.Am J Hum Genet2022
33480994Maintenance of Adaptive Dynamics and No Detectable Load in a Range-Edge Outcrossing Plant Population.Mol Biol Evol2021
33493157Polygenic adaptation of rosette growth in Arabidopsis thaliana.PLoS Genet2021
33963077Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.Genome Res2021
33480994Maintenance of Adaptive Dynamics and No Detectable Load in a Range-Edge Outcrossing Plant Population.Mol Biol Evol2021
34163020The origin of human mutation in light of genomic data.Nat Rev Genet2021
34099647Replicate sequencing libraries are important for quantification of allelic imbalance.Nat Commun2021
33664438Shared associations identify causal relationships between gene expression and immune cell phenotypes.Commun Biol2021
33597505Population-specific causal disease effect sizes in functionally important regions impacted by selection.Nat Commun2021
34385354Population sequencing data reveal a compendium of mutational processes in the human germ line.Science2021
34376821Author Correction: The origin of human mutation in light of genomic data.Nat Rev Genet2021
33493157Polygenic adaptation of rosette growth in Arabidopsis thaliana.PLoS Genet2021
33597505Population-specific causal disease effect sizes in functionally important regions impacted by selection.Nat Commun2021
33664438Shared associations identify causal relationships between gene expression and immune cell phenotypes.Commun Biol2021
34376821Author Correction: The origin of human mutation in light of genomic data.Nat Rev Genet2021
34385354Population sequencing data reveal a compendium of mutational processes in the human germ line.Science2021
34099647Replicate sequencing libraries are important for quantification of allelic imbalance.Nat Commun2021
33963077Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.Genome Res2021
34163020The origin of human mutation in light of genomic data.Nat Rev Genet2021
31589312Fine-Scale Haplotype Structure Reveals Strong Signatures of Positive Selection in a Recombining Bacterial Pathogen.Mol Biol Evol2020
32015527Identification of cancer driver genes based on nucleotide context.Nat Genet2020
31589312Fine-Scale Haplotype Structure Reveals Strong Signatures of Positive Selection in a Recombining Bacterial Pathogen.Mol Biol Evol2020
32470373Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics.Am J Hum Genet2020
32015527Identification of cancer driver genes based on nucleotide context.Nat Genet2020
32470373Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics.Am J Hum Genet2020
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Collaborators

Peer Bork
University of Wurzburg
Co-authored papers 17
Daniel M Jordan
Icahn School of Medicine at Mount Sinai
Co-authored papers 13
John A Stamatoyannopoulos
Altius Institute for Biomedical Sciences
Co-authored papers 13
Gregory V Kryukov
Co-authored papers 12
Ivan Adzhubei
Co-authored papers 11
Paul I W de Bakker
Vertex Pharmaceuticals
Co-authored papers 10
Paz Polak
McGill University
Co-authored papers 10
Andrej Shevchenko
Max Planck Institute of Molecular Cell Biology and Genetics
Co-authored papers 10
Mark J Daly
Massachusetts General Hospital
Co-authored papers 9
Adam Kiezun
Co-authored papers 8
Nathan O Stitziel
Co-authored papers 8
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 8
Robert E Thurman
University of Washington
Co-authored papers 7
Alkes L Price
Broad Institute of MIT and Harvard
Co-authored papers 7
Ron Do
Co-authored papers 7
Soumya Raychaudhuri
Brigham and Women's Hospital and Harvard Medical School
Co-authored papers 6
Benjamin M Neale
Massachusetts General Hospital
Co-authored papers 6
Eric S Lander
Vanderbilt-Ingram Cancer Center, Vanderbilt University
Co-authored papers 6
Susan Redline
Brigham and Women's Hospital
Co-authored papers 6
Ignaty Leshchiner
Broad Institute of Massachusetts Institute of Technology and Harvard
Co-authored papers 5
Richard L Maas
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 5
Kaitlin E Samocha
Co-authored papers 5
Daniel G MacArthur
Broad Institute of MIT and Harvard
Co-authored papers 5
Richard Sandstrom
Altius Institute for Biomedical Sciences
Co-authored papers 5
Gon??alo R Abecasis
Regeneron Pharmaceuticals Inc.
Co-authored papers 5
Brian E Cade
Co-authored papers 5
Xihong Lin
Harvard T.H. Chan School of Public Health
Co-authored papers 5
Carlos D Bustamante
Stanford University
Co-authored papers 4
Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 4
Kent D Taylor
Co-authored papers 4
Release 1.2