Mark Pinese

Employment

• Children's Cancer Institute Australia Team Leader
  2022 - Present
• Garvan Institute of Medical Research Visiting Scientist
  2019 - Present
• Children's Cancer Institute Senior Bioinformatics Research Officer
  2019 - 2021
• Garvan Institute of Medical Research Senior Research Officer
  2016 - 2019
• Garvan Institute of Medical Research Bioinformatics Research Officer
  2015 - 2016
• Garvan Institute of Medical Research Senior Research Assistant
  2011 - 2011
• Garvan Institute of Medical Research Research Assistant
  2006 - 2009
• UNSW Sydney

Education

• Garvan Institute of Medical Research PhD
  2011 - 2015
• University of New South Wales BSc. (Hons.)
  2002 - 2005

Projects & Funding

Projects & funding information is unavailable.

Publications (51)

• Updated penetrance estimates for recurrent copy number variants – an improved definition and formula
  European Journal of Human Genetics 2026 DOI: 10.1038/s41431-025-01948-0
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• AEon: A global genetic ancestry estimation tool
  2024 DOI: 10.1101/2024.06.18.599246
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• Recurrent SPECC1L–NTRK fusions in pediatric sarcoma and brain tumors
  Molecular Case Studies 2020 DOI: 10.1101/mcs.a005710
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• Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
  Nature Medicine 2020 DOI: 10.1038/s41591-020-1072-4
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• mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data
  2019 DOI: 10.1101/852210
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• Therapeutic implications of germline genetic findings in cancer
  Nature Reviews Clinical Oncology 2019 DOI: 10.1038/s41571-019-0179-3
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• Author Correction: Therapeutic implications of germline genetic findings in cancer
  Nature Reviews Clinical Oncology 2019 DOI: 10.1038/s41571-019-0212-6
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• Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases
  Molecular Case Studies 2019 DOI: 10.1101/mcs.a003764
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• The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design
  European Journal of Human Genetics 2019 DOI: 10.1038/s41431-018-0279-z
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• The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly
  2018 DOI: 10.1101/473348
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