World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
110
Citations
113773
World Ranking
524
National Ranking
36

Medicine

D-Index
108
Citations
103569
World Ranking
5852
National Ranking
328

Research.com Recognitions

  • 2015 - German National Academy of Sciences Leopoldina - Deutsche Akademie der Naturforscher Leopoldina – Nationale Akademie der Wissenschaften Human Genetics and Molecular Medicine
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)

Overview

Jan O. Korbel is affiliated with the European Bioinformatics Institute in the United Kingdom. Their research predominantly spans the field of Biochemistry, Genetics and Molecular Biology, with a focus on several subfields including Molecular Biology, Genetics, Cancer Research, Plant Science, and Oncology.

Their work covers multiple main topics, reflecting a broad genomics expertise:

  • Cancer Genomics and Diagnostics
  • Genomics and Phylogenetic Studies
  • Chromosomal and Genetic Variations
  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • Single-cell and spatial transcriptomics
  • Genomics and Chromatin Dynamics

Jan O. Korbel has contributed to numerous scientific publications, with notable recent papers including:

  • Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment, 2020, Cell
  • Eleven grand challenges in single-cell data science, 2020, Genome Biology
  • A draft human pangenome reference, 2023, Nature
  • Patterns of somatic structural variation in human cancer genomes, 2020, Nature
  • High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios, 2022, Cell

The frequent publication venues for their work reflect a strong presence in leading journals and repositories, including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Zenodo (CERN European Organization for Nuclear Research)
  • Nature
  • Nature Communications
  • Nature Genetics

Collaborations play an important role in their research, as evidenced by frequent co-authors such as:

  • Tobias Marschall
  • Evan E. Eichler
  • Tobias Rausch
  • Ashley D. Sanders
  • Patrick Hasenfeld

Jan O. Korbel has received recognition including membership in the European Molecular Biology Organization (EMBO) and induction into the German National Academy of Sciences Leopoldina, specifically in the field of Human Genetics and Molecular Medicine.

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

    Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó

  • Pan-cancer analysis of whole genomes

    Peter J. Campbell;Gad Getz;Jan O. Korbel;Joshua M. Stuart

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

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

  • An integrated map of structural variation in 2,504 human genomes

    Peter H. Sudmant;Tobias Rausch;Eugene J. Gardner;Robert E. Handsaker;Robert E. Handsaker

  • International network of cancer genome projects

    Thomas J. Hudson;Thomas J. Hudson;Warwick Anderson;Axel Aretz;Anna D. Barker

  • DELLY: structural variant discovery by integrated paired-end and split-read analysis

    Tobias Rausch;Thomas Zichner;Andreas Schlattl;Adrian M. Stütz

  • Comprehensive genomic profiles of small cell lung cancer

    Julie George;Jing Shan Lim;Se Jin Jang;Yupeng Cun

  • The landscape of genomic alterations across childhood cancers

    Susanne N. Gröbner;Barbara C. Worst;Joachim Weischenfeldt;Joachim Weischenfeldt;Ivo Buchhalter

  • Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment.

    Jonas Schulte-Schrepping;Nico Reusch;Daniela Paclik;Kevin Baßler

  • Paired-end mapping reveals extensive structural variation in the human genome.

    Jan O. Korbel;Alexander Eckehart Urban;Jason P. Affourtit;Brian Godwin

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

  • Eleven grand challenges in single-cell data science

    David Lähnemann;David Lähnemann;Johannes Köster;Johannes Köster;Ewa Szczurek;Davis J. McCarthy;Davis J. McCarthy

  • Subgroup-specific structural variation across 1,000 medulloblastoma genomes

    Paul A. Northcott;Paul A. Northcott;David J.H. Shih;John Peacock;Livia Garzia

  • What is a gene, post-ENCODE? History and updated definition

    Mark B. Gerstein;Joel S. Rozowsky;Deyou Zheng;Jiang Du

  • The whole-genome landscape of medulloblastoma subtypes

    Paul A. Northcott;Paul A. Northcott;Ivo Buchhalter;Ivo Buchhalter;A. Sorana Morrissy;Volker Hovestadt

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Dissecting the genomic complexity underlying medulloblastoma

    David T. W. Jones;Natalie Jäger;Marcel Kool;Thomas Zichner

Frequent Co-Authors

Stefan M. Pfister
Stefan M. Pfister German Cancer Research Center
Andreas E. Kulozik
Andreas E. Kulozik Heidelberg University
Peter Lichter
Peter Lichter German Cancer Research Center
Roland Eils
Roland Eils Charité - University Medicine Berlin
Mark Gerstein
Mark Gerstein Yale University
Andrey Korshunov
Andrey Korshunov German Cancer Research Center
Paul A. Northcott
Paul A. Northcott St. Jude Children's Research Hospital
David T. W. Jones
David T. W. Jones German Cancer Research Center
Marcel Kool
Marcel Kool German Cancer Research Center
Marc Zapatka
Marc Zapatka German Cancer Research Center

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