Mark Gerstein

About

Mark Gerstein is the Albert L Williams Professor and Principal Investigator of the Gerstein Bioinformatics Group at Yale University. His research focuses on bioinformatics, with particular emphasis on the development of computational methods to analyze biological data. His work involves understanding complex biological systems through data-driven approaches, contributing significantly to the fields of genomics, systems biology, and computational biology. As a leading figure in bioinformatics, Gerstein's contributions include advancing the understanding of molecular biology through computational techniques, and mentoring a diverse group of researchers, including postdoctoral associates, graduate students, and undergraduates. His role at Yale involves both research and leadership in the bioinformatics community, fostering innovations that bridge biology and computer science.

Research topics

• Biology
• Genetics
• Computational biology
• Computer Science
• Evolutionary biology
• Neuroscience
• Medicine
• Machine Learning
• Virology
• Psychiatry

Selected publications

• The repertoire of mutational signatures in human cancer

  Nature · 2020 · 3673 citations

  , enabled the discovery of new signatures, the separation of overlapping signatures and the decomposition of signatures into components that may represent associated-but distinct-DNA damage, repair and/or replication mechanisms. By estimating the contribution of each signature to the mutational catalogues of individual cancer genomes, we revealed associations of signatures to exogenous or endogenous exposures, as well as to defective DNA-maintenance processes. However, many signatures are of unk…

  DOI

• Pan-cancer analysis of whole genomes

  Nature · 2020 · 3248 citations

  .

  DOI

• Mapping genomic loci implicates genes and synaptic biology in schizophrenia

  Nature · 2022 · 2693 citations

  , much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 pro…

  DOI

• Expanded encyclopaedias of DNA elements in the human and mouse genomes

  Nature · 2020 · 2538 citations

  data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the…

  DOI

• GENCODE 2021

  Nucleic Acids Research · 2020 · 1442 citations

  The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource that supports genome biology and clinical genomics. GENCODE annotation processes make use of primary data and bioinformatic tools and analysis generated both within the consortium and externally to support the creation of transcript structures and the determination of their function. Here, we present improvements to our annotation infrastructure…

  DOI

Recent grants

• Enhancing open data sharing for functional genomics experiments: Measures to quantify genomic information leakage and file formats for privacy preservation

  NIH · $526k · 2020–2025

• Genomic mosaicism in developing human brain

  NIH · $3.5M · 2014–2019

• Collaborative Proposal: ABI Innovation:A Graph Based Approach for the Genome Wide Prediction of Conditionaly Essential Genes

  NSF · $1.2M · 2017–2022

Frequent coauthors

• Joel Rozowsky

  Lieber Institute for Brain Development

  301 shared

• Mark A. Rubin

  University of Bern

  296 shared

• M Snyder

  286 shared

• Andrea Sboner

  Weill Cornell Medicine

  215 shared

• Rory Johnson

  University Hospital of Bern

  210 shared

• Jan O. Korbel

  German Cancer Research Center

  207 shared

• Lars Feuerbach

  German Cancer Research Center

  168 shared

• Rajiv Dhir

  Shadyside Hospital

  158 shared

Labs

• Gerstein Bioinformatics GroupPI

  Not provided

Education

• PhD, Chemistry

  University of Cambridge

  1993

Similar researchers at Yale University

• Andrew Barronh-88
• Huibin Zhouh-55
• Yihong Wuh-37