Journal
HUMAN MUTATION
Volume 36, Issue 4, Pages 432-438Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.22772
Keywords
rare genetic disorders; phenotype annotation; case matching; human phenotype ontology
Categories
Funding
- B.C. Children's Hospital Foundation
- Genome BC [SOF-195]
- BC Clinical Genomics Network [00032]
- Canadian Institutes of Health Research [301221]
- Canadian Institutes of Health Research Studentship Award
- Genome BC
- Genome Canada
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Advances in next-generation sequencing (NGS) technologies have helped reveal causal variants for genetic diseases. In order to establish causality, it is often necessary to compare genomes of unrelated individuals with similar disease phenotypes to identify common disrupted genes. When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. We introduce a web tool, GeneYenta, which facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. Importantly, the system is focused on phenotype annotation, with explicit limitations on highly confidential data that create barriers to participation. The procedure for matching of patient phenotypes, inspired by online dating services, uses an ontologybased semantic case matching algorithm with attribute weighting. We evaluate the capacity of the system using a curated reference data set and 19 clinician entered cases comparing four matching algorithms. We find that the inclusion of clinician weights can augment phenotype matching.
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