Frequency / statistic
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 60%
Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epile
A source reports “0.005%” in the context of neurodevelopment: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis across the entire exome, at both an individual-gene and a gene-set level. "Ultra-rare" variants (URVs) wer”
How this was derived
Numbers are quoted verbatim from the source; check the source before quoting onward.
Generated 2026-11-13, last changed
yesterday. Dedup key freq:0.005%.
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
Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis across the entire exome, at both an individual-gene and a gene-set level. "Ultra-rare" variants (URVs) were defined as variants observed no more than five copies among the combined case-control cohort, which corresponded to a minor allele frequen
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Exome sequencing of 20,979 individuals with epilepsy reveals shared... | pmc | 2024-01-01 | yesterday | 1.00 |