Frequency / statistic
Research frontier
1 supporting source
confidence 97%
novelty 60%
To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exo
A source reports “0.1%” in the context of general: “To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a quality score >200.”
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:0.1%.
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
To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a quality score >200.
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 |