Peter Park

About

Peter Park, PhD, is a Professor of Biomedical Informatics at Harvard Medical School and serves as the director of its Bioinformatics and Integrative Genomics (BIG) PhD program. His research group specializes in the computational and statistical analysis of large-scale DNA sequencing data to understand genetic and epigenetic mechanisms related to disease processes. Originally trained in applied mathematics with a B.A. from Harvard and a Ph.D. from Caltech, he was introduced to molecular biology and genetics during his postdoctoral studies in biostatistics. His laboratory has developed several algorithms for identifying and interpreting genomic alterations in the human genome, especially those from cancer patients. His group has contributed significantly to numerous consortium projects such as The Cancer Genome Atlas (TCGA), Encyclopedia of DNA Elements (ENCODE), Brain Somatic Mosaicism Network, 4D Nucleome, and Somatic Mosaicism across Human Tissues (SMaHT). His work has been funded by prominent organizations including the National Institutes of Health, Cancer Research UK Grand Challenges, The Mark Foundation for Cancer Research, and others.

Research topics

• Biology
• Genetics
• Computational biology
• Evolutionary biology
• Statistics
• Cancer research
• Mathematics
• Virology

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

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  DOI

• The evolutionary history of 2,658 cancers

  Nature · 2020 · 1112 citations

  , we reconstruct the life history and evolution of mutational processes and driver mutation sequences of 38 types of cancer. Early oncogenesis is characterized by mutations in a constrained set of driver genes, and specific copy number gains, such as trisomy 7 in glioblastoma and isochromosome 17q in medulloblastoma. The mutational spectrum changes significantly throughout tumour evolution in 40% of samples. A nearly fourfold diversification of driver genes and increased genomic instability are…

  DOI

• Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

  Nature Genetics · 2020 · 763 citations

  Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothrips…

  DOI

• Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

  Nature · 2020 · 655 citations

  , raise doubts about others and identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untranslated regions of NFKBIZ and TOB1, focal deletions in BRD4 and rearrangements in the loci of AKR1C genes. We show that although point mutations and structural variants that drive cancer are less frequent in non-coding genes and regulatory sequences than in protein-coding genes, additional examples of these drivers will be found as more cancer genomes become available.

  DOI

Recent grants

• 1/2-Somatic mosaicism and autism spectrum disorder

  NIH · $1.8M · 2015–2020

• NIH Grant RC1HG005482

  NIH · $773k · 2012

• 4D Nucleome Network Data Coordination and Integration Center

  NIH · $21.9M · 2015–2026

Frequent coauthors

• Christopher A. Walsh

  Mount Sinai Hospital

  187 shared

• Peter V. Kharchenko

  Harvard University

  179 shared

• Eunjung Alice Lee

  Broad Institute

  178 shared

• Rory Johnson

  University Hospital of Bern

  169 shared

• Michael Tolstorukov

  168 shared

• L. Sylvia

  Mirai Hospital

  164 shared

• Joshua M. Stuart

  University of California, Santa Cruz

  163 shared

• Lars Feuerbach

  German Cancer Research Center

  159 shared

Labs

• Park LabPI

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