17q12, explained for kidsdeletion syndrome · static snapshot
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A number from a study What scientists are working on 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.”

More a number from a study

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)

StorySourcePublishedSeenRelevance
Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 yesterday 1.00