World's Best Scientists 2026 revealed!
Jeremy Schwartzentruber

Jeremy Schwartzentruber

D-Index & Metrics

Genetics

D-Index
65
Citations
21631
World Ranking
2666
National Ranking
338

Overview

Jeremy Schwartzentruber is affiliated with the Wellcome Sanger Institute in the United Kingdom. Their research primarily spans the field of Biochemistry, Genetics and Molecular Biology, with a focus on Molecular Biology, Genetics, Infectious Diseases, Immunology, and Computational Theory and Mathematics.

The scientist's main research topics include Genetic Associations and Epidemiology, Bioinformatics and Genomic Networks, Genomics and Chromatin Dynamics, SARS-CoV-2 and COVID-19 Research, Genomics and Rare Diseases, CRISPR and Genetic Engineering, and Epigenetics and DNA Methylation.

Schwartzentruber has contributed to several recent publications, including the following:

  • Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes, 2021, Nature Genetics
  • Mapping the human genetic architecture of COVID-19, 2021, Nature
  • Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics, 2020, Nucleic Acids Research
  • An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci, 2021, Nature Genetics
  • Open Targets Platform: supporting systematic drug-target identification and prioritisation, 2020, Nucleic Acids Research

Their frequent co-authors include:

  • Maya Ghoussaini
  • Ian Dunham
  • Mohd Anisul Karim
  • David Ochoa
  • Andrew Bassett

Jeremy Schwartzentruber's work has been published extensively in prominent venues such as bioRxiv (Cold Spring Harbor Laboratory), Nucleic Acids Research, Nature Genetics, Zenodo (CERN European Organization for Nuclear Research), and Nature.

Best Publications

  • Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

    Jeremy Schwartzentruber;Andrey Korshunov;Xiao Yang Liu;David T.W. Jones

  • Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.

    Dominik Sturm;Hendrik Witt;Hendrik Witt;Volker Hovestadt;Dong Anh Khuong-Quang

  • K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.

    Dong Anh Khuong-Quang;Pawel Buczkowicz;Patricia Rakopoulos;Xiao Yang Liu

  • Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

    David T W Jones;Barbara Hutter;Natalie Jäger;Andrey Korshunov;Andrey Korshunov

  • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  • Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.

    Maya Ghoussaini;Edward Mountjoy;Miguel Carmona;Gareth Peat

  • What can exome sequencing do for you

    Jacek Majewski;Jeremy Schwartzentruber;Emilie Lalonde;Alexandre Montpetit

  • Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.

    Xiao-Yang Liu;Noha Gerges;Andrey Korshunov;Nesrin Sabha

  • Clonal selection drives genetic divergence of metastatic medulloblastoma

    Xiaochong Wu;Paul A. Northcott;Adrian Dubuc;Adam J. Dupuy

  • Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

    Adam M. Fontebasso;Simon Papillon-Cavanagh;Jeremy Schwartzentruber;Hamid Nikbakht

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

    S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  • An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.

    Edward Mountjoy;Ellen M. Schmidt;Miguel Carmona;Jeremy Schwartzentruber;Jeremy Schwartzentruber

  • Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes

    Jeremy Schwartzentruber;Jeremy Schwartzentruber;Sarah Cooper;Jimmy Z. Liu;Inigo Barrio-Hernandez

  • Open Targets Platform: supporting systematic drug-target identification and prioritisation.

    David Ochoa;Andrew Hercules;Miguel Carmona;Daniel Suveges

  • Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

    Adam M. Fontebasso;Jeremy Schwartzentruber;Dong Anh Khuong-Quang;Xiao Yang Liu

  • Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

    Sarah L Sawyer;Lei Tian;Marketta Kähkönen;Jeremy Schwartzentruber

  • Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

    Martin H. Berryer;Fadi F. Hamdan;Laura L. Klitten;Rikke S. Møller

  • FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

    Chandree L. Beaulieu;Jacek Majewski;Jeremy Schwartzentruber;Mark E. Samuels

  • Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

    Francois P. Bernier;Oana Caluseriu;Sarah Ng;Jeremy Schwartzentruber

Frequent Co-Authors

Jacek Majewski
Jacek Majewski McGill University
Kym M. Boycott
Kym M. Boycott Children's Hospital of Eastern Ontario
Dennis E. Bulman
Dennis E. Bulman Children's Hospital of Eastern Ontario
Nada Jabado
Nada Jabado McGill University
Stefan M. Pfister
Stefan M. Pfister German Cancer Research Center
David A. Dyment
David A. Dyment University of Ottawa
A. Micheil Innes
A. Micheil Innes University of Calgary
Jacques L. Michaud
Jacques L. Michaud University of Montreal
Andrey Korshunov
Andrey Korshunov German Cancer Research Center
Mark E. Samuels
Mark E. Samuels University of Montreal

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring a career in Genetics opens doors to many related fields and online degrees that can complement your expertise. If you’re considering a broader healthcare path, there are flexible options for further study and specialization.

For those with a nursing background, the best online rn to bsn programs without clinical requirements offer a convenient route to advance your academic credentials without the need for in-person clinicals. If you already hold a master’s, upgrading to terminal degrees is possible through the shortest msn to dnp program, which emphasizes efficiency and flexibility for working professionals.

Not all roles require a long-term degree commitment. Aspiring healthcare professionals may consider a medical assistant training program, which can be completed in a matter of weeks and provides foundational skills in patient care and laboratory work. For those interested in advanced clinical leadership, exploring dnp school options can help you find accessible pathways to a Doctor of Nursing Practice degree.

These related online programs support diverse career trajectories for anyone passionate about genetics, healthcare, or biotech fields.

Best Scientists Citing Jeremy Schwartzentruber

Trending Scientists