Peter Robinson, M.D., MSc.
Professor of Computational Biology
Develops algorithms and software for the analysis of exome and genome sequences.
Peter Robinson studied Mathematics and Computer Science at Columbia University and Medicine at the University of Pennsylvania. He completed training as a Pediatrician at the Charité University Hospital in Berlin, Germany. His group developed the Human Phenotype Ontology (HPO), which is now an international standard for computation over human disease that is used by the Sanger Institute, several NIH-funded groups including the Undiagnosed Diseases Program, Genome Canada, the rare diseases section of the UK's 100,000 Genomes Project, and many others. The group develops algorithms and software for the analysis of exome and genome sequences and has used whole-exome sequencing and other methods to identify a number of novel disease genes, including CA8, PIGV, PIGO, PGAP3, IL-21R, PIGT, and PGAP2.
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Research HighlightDecember 05, 2023Introducing the Medical Action Ontology
Peter Robinson has developed the Medical Action Ontology, which will further expand the scope of efforts to computationally model diseases and phenotypic features. -
Research HighlightJune 01, 2023New phenopacket-tools released to simplify construction of phenopackets
Peter Robinson and colleagues have developed phenopacket-tools, which simplify construction of phenopackets by providing programmatic shortcuts and predefined building blocks. -
Press ReleaseDecember 19, 2022An outstanding year of growth at The Jackson Laboratory
2022 has been a notable year for The Jackson Laboratory, with great achievements and many reasons to celebrate continued momentum for JAX’s mission. -
Research HighlightAugust 18, 2022Defining long COVID with patient data
Peter Robinson is working with hospital systems across the U.S. to pool COVID patient data and better define the scope of the long COVID problem and provide better clinical insight for patients.
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Research HighlightNovember 14, 2023The Human Phenotype Ontology goes global
Researchers led by Peter Robinson developed the Human Phenotype Ontology (HPO) to better represent the diversity of human phenotypes. -
Research HighlightJanuary 26, 2023Examining long COVID
New JAX research is examining long COVID using data from healthcare systems across the US as part of the National COVID Cohort Collaborative (N3C). -
Press ReleaseAugust 31, 2022Peter Robinson to serve on NHGRI Advisory Council
Peter Robinson of the Jackson Laboratory was sworn in to the National Human Genome Research Institute’s (NHGRI) Advisory Council on Aug 19, 2022. -
Research HighlightJune 15, 2022Unlocking clinical phenotype data
JAX Professor Peter Robinson has spearheaded an effort to make phenotypic data (a collection of our traits) accessible and computable across platforms. The result, called the Phenopacket schema, is now freely available.