Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discove…
A source describes a new or expanded observation: “Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different subtypes of epilepsies.”
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:1f7db9.
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)
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
peer_reviewed
· published 2024-01-01
· live page
Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different subtypes of epilepsies.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Exome sequencing of 20,979 individuals with epilepsy reveals shared... | pmc | 2024-01-01 | yesterday | 1.00 |