Peter Robinson
Full Professor at Charité - Universitätsmedizin Berlin, Institute for Human and Medical Genetics
Farmington, Connecticut, United States
Summary
👤
Senior🎓
Top SchoolPeter Robinson is a Full Professor of Computational Biology and PI of the Human Phenotype Ontology project, combining deep clinical insight from a prior career as a certified pediatrician and 15 years in Medical Genetics with expertise in algorithm development for genomics. He leads cross-disciplinary teams at The Jackson Laboratory and the Berlin Institute of Health, advancing methods for exome/genome sequencing, RNA-seq, immunosequencing, Capture Hi-C, and ChIP-seq. His group has discovered multiple Mendelian disease genes and probed genotype–phenotype correlations and pathobiology in Marfan syndrome, translating computational findings into biological and clinical impact. Trained in mathematics (Columbia) and medicine (Penn), he is notable for bridging rigorous quantitative modeling with hands-on genomic technology development and ontology-driven phenotype annotation.
11 years of coding experience
Bachelor’s Degree, Mathematics, Bachelor’s Degree, Mathematics at Columbia CollegeDoctor of Medicine - MD, Doctor of Medicine - MD at University of Pennsylvania School of Medicine
Github Skills (186)
interpretation10
ontology10
semantic-web10
prediction10
genomics10
owl10
schema10
representation-learning10
test-results10
ontologies10
semantics10
genome10
java10
infectious-diseases10
sequencing10
Programming languages (16)
Github contributions (5)
TheJacksonLaboratory/PhenopacketGenerator
Nov 2019 - Jan 2021
Generate a phenopacket for use with LIRICAL or Exomiser
Contributions:3 releases, 4 reviews, 44 commits in 1 year 2 months
pnrobinson/vcf2omop
Jul 2017 - Oct 2021
vcf2omop
Contributions:44 commits, 22 PRs, 38 pushes in 4 years 3 months
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