Peter N. Robinson
A5033225381- Genomics and Rare Diseases
- Biomedical Text Mining and Ontologies
- Bioinformatics and Genomic Networks
- Connective tissue disorders research
- Radiomics and Machine Learning in Medical Imaging
- AI in cancer detection
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Aortic Disease and Treatment Approaches
- Cardiac Valve Diseases and Treatments
- Genomics and Phylogenetic Studies
- Semantic Web and Ontologies
- RNA Research and Splicing
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Genetics, Bioinformatics, and Biomedical Research
- Genetic Associations and Epidemiology
- COVID-19 Clinical Research Studies
- Topic Modeling
- Aortic aneurysm repair treatments
- Long-Term Effects of COVID-19
- RNA and protein synthesis mechanisms
- Biochemical and Molecular Research
Jackson Laboratory
2016-2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2011-2025
University of Connecticut
2016-2025
Charité - Universitätsmedizin Berlin
2011-2024
Enable Biosciences (United States)
2020-2024
Monarch Media (United States)
2024
Inserm
2023
The JAX Cancer Center
2023
University of Virginia
2023
UConn Health
2021-2022
Abstract The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard describe and computationally analyze phenotypic abnormalities found human disease. HPO is now worldwide for phenotype exchange. has grown steadily since its inception due considerable contributions from clinical experts researchers diverse range of disciplines. Here, we present recent major extensions the neurology, nephrology, immunology, pulmonology, newborn...
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% all using terms from ontologies anatomy, cell types, function, embryology, pathology other domains. This allows interoperability with several resources, especially...
The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions clinical computable disease definitions have made HPO de facto standard for deep phenotyping in field rare disease. HPO's interoperability other ontologies has enabled it to be improve diagnostic accuracy incorporating model organism...
Abstract Summary: The Ontologizer is a Java application that can be used to perform statistical analysis for overrepresentation of Gene Ontology (GO) terms in sets genes or proteins derived from an experiment. implements the standard approach based on one-sided Fisher's exact test, novel parent–child method, as well topology-based algorithms. A number multiple-testing correction procedures are provided. allows users visualize data graph including all significantly overrepresented GO and...
Coronavirus disease 2019 (COVID-19) poses societal challenges that require expeditious data and knowledge sharing. Though organizational clinical are abundant, these largely inaccessible to outside researchers. Statistical, machine learning, causal analyses most successful with large-scale beyond what is available in any given organization. Here, we introduce the National COVID Cohort Collaborative (N3C), an open science community focused on analyzing patient-level from many centers.The...
The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology biomedicine. Numerous challenges impede our progress: patient phenotypes may not match known diseases, candidate variants be genes that have been characterized, model organisms recapitulate human or veterinary filling evolutionary gaps difficult, many resources must queried to find potentially significant genotype–phenotype associations. Non-human proven instrumental revealing...
There are few better examples of the need for data sharing than in rare disease community, where patients, physicians, and researchers must search "the needle a haystack" to uncover rare, novel causes within genome. Impeding pace discovery has been existence many small siloed datasets individual research or clinical laboratory databases and/or disease-specific organizations, hoping serendipitous occasions when two distant investigators happen learn they have phenotype common can "match"...
Provision of a molecularly confirmed diagnosis in timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, fosters counseling respect to recurrence risks while assuring reproductive choices. In general clinical genetics setting, the current diagnostic rate is approximately 50%, but those who do not receive molecular after initial evaluation, that much lower. Diagnostic success these more challenging affected...
Abstract Motivation: High-throughput experiments such as microarray hybridizations often yield long lists of genes found to share a certain characteristic differential expression. Exploring Gene Ontology (GO) annotations for has become widespread practice get first insights into the potential biological meaning experiment. The standard statistical approach measuring overrepresentation GO terms cannot cope with dependencies resulting from structure because they analyze each term in isolation....
Numerous new disease-gene associations have been identified by whole-exome sequencing studies in the last few years. However, many cases remain unsolved due to sheer number of candidate variants remaining after common filtering strategies such as removing low quality and those deemed unlikely be pathogenic. The observation that each our genomes contains about 100 genuine loss-of-function makes identification causative mutation problematic when using these alone. We propose wealth genotype...