Author

Jakob M. Goldmann

Radboud University Medical CenterORCID 0000-0002-8514-573XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Christian GilisseniD· 3 shared Wendy S.W. WongiD· 3 shared Joris Andre VeltmaniD· 2 shared Vladimir B. SeplyarskiyiD· 2 shared Adolfo CorreaiD· 1 shared Amy B. WilfertiD· 1 shared Ani W ManichaikuliD· 1 shared Benjamin D. SolomoniD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenomics

Christian GilissenORCID

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Author profile →

3 papers

Recent·Most cited

Stochasticity explains differences in the number of de novo mutations between families

Jakob M. Goldmann, Juliet E. Hampstead, Wendy S.W. Wong, Amy B. Wilfert, Tychele N. Turner, Marianne A. Jonker, Raphael Bernier, Martijn A. Huynen, Evan E. Eichler, Joris Andre Veltman, George Larry Maxwell, Christian Gilissen

The paper investigates family-specific contributions to de novo mutations and finds that stochasticity explains most of the variation.

Genome Research · Sep 1, 2021Peer-reviewedGenomics

Population sequencing data reveal a compendium of mutational processes in human germline

Vladimir B. Seplyarskiy, Ruslan Soldatov, Ryan J. McGinty, Jakob M. Goldmann, Ryan D. Hernandez, Kathleen C. Barnes, Adolfo Correa, Esteban G. Burchard, Patrick T. Ellinor, Stephen T. McGarvey, Braxton D. Mitchell, Ramachandran Srini Vasan, Susan S Redline, Edwin K. Silverman, Scott T. Weiss, , Shamil R. Sunyaev

The paper decomposes mutation rate and spectra variation in human germline using blind source separation, identifying nine processes including those related to DNA damage and replication timing.

bioRxiv · Jan 10, 2020 · PreprintGenetics

Germline De Novo Mutation Clusters Arise During Oocyte Aging In Genomic Regions With Increased Double-Strand Break Incidence

Jakob M. Goldmann, Vladimir B. Seplyarskiy, Wendy S.W. Wong, Thierry Vilboux, Pieter B. T. Neerincx, Dale L. Bodian, Benjamin D. Solomon, Joris Andre Veltman, John F. Deeken, Christian Gilissen, John E. Niederhuber

The paper identifies maternal age-related mutation clusters in germline de novo mutations linked to double-strand break processes.

Nature Genetics · Mar 1, 2018Peer-reviewedGenomics