Phenotype expansion
Research frontier
1 supporting source
confidence 97%
novelty 90%
New observation reported: CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional inform…
A source describes a new or expanded observation: “CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our ToppGene Suite can complement these existing approaches by applying novel methods that mine mouse phenotype data and PPIN.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:700004.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
peer_reviewed
· published 2023-03-06
· live page
CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our ToppGene Suite can complement these existing approaches by applying novel methods that mine mouse phenotype data and PPIN.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Functional genomics analysis identifies loss of HNF1B function as a... | pubmed | 2023-03-06 | yesterday | 1.00 |