Vladimir B. Seplyarskiy

Brigham and Women's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

20h-index1.7kcitations49works4.82yr avg
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Research Topics

Cancer Genomics and Diagnostics(23), Evolution and Genetic Dynamics(16), DNA Repair Mechanisms(9), Genomics and Chromatin Dynamics(8), Epigenetics and DNA Methylation(8)

Publications45 total

Transcription start sites experience a high influx of heritable variants fueled by early development
Nature Communications·2025· 1 citedOpen Access
Hotspots of human mutation point to clonal expansions in spermatogonia
Nature·2025· 5 citedOpen Access
Segregating DNA lesions point to high selective advantage of tumor initiating cells
2025Open Access
Transcription start sites experience a high influx of heritable variants fuelled by early development
2025· 2 citedOpen Access
Hotspots of human mutation point to clonal expansions in spermatogonia
2025· 4 citedOpen Access
A Phylogeny-Based Approach to Discover Mutational Processes in Primates
2024Open Access
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Science·2024· 16 citedOpen Access
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells
European Journal of Human Genetics·2024· 11 citedOpen Access
Mutational signature decomposition with deep neural networks reveals origins of clock-like processes and hypoxia dependencies
2023· 6 citedOpen Access
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription
Nature Genetics·2023· 45 citedOpen Access
A mutation rate model at the basepair resolution identifies the mutagenic effect of Polymerase III transcription
2022· 10 citedOpen Access
Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells
2022· 7 citedOpen Access
Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
2022· 4 citedOpen Access
Estimates of heterozygous selection per gene, derived from gnomAD v2.1.1
Figshare·2022Open Access
Estimates of heterozygous selection per gene, derived from gnomAD v2.1.1
Figshare·2022Open Access
Estimates of heterozygous selection per gene, derived from gnomAD v2.1.1
Figshare·2022Open Access
Population sequencing data reveal a compendium of mutational processes in the human germ line
Science·2021· 72 citedOpen Access
Author Correction: The origin of human mutation in light of genomic data
Nature Reviews Genetics·2021Open Access
Publisher Correction: Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence
Nature Genetics·2021Open Access
The origin of human mutation in light of genomic data
Nature Reviews Genetics·2021· 62 cited
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Frequent Co-authors

Georgii A. Bazykin(18), Shamil Sunyaev(16), Maria Andrianova(11), Sergey I. Nikolaev(9), Ruslan Soldatov(7), Jakob M. Goldmann(6), Wendy S.W. Wong(6), Christian Gilissen(6), Alexey S. Kondrashov(6), Stylianos E. Antonarakis(5), Evan Koch(5), Daniel J. Lee(5), Thierry Vilboux(4), Dale L. Bodian(4), Benjamin D. Solomon(4), Joris A. Veltman(4), John F. Deeken(4), John E. Niederhuber(4), Thomas McKee(3), Pascale Ribaux(3)