Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:5be449.
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)
Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
peer_reviewed
· published 2024-01-01
· live page
Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Identification of novel driver risk genes in CNV loci associated wi... | pmc | 2024-01-01 | yesterday | 0.45 |