17q12 Knowledge Basedeletion syndrome · static snapshot
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Frequency / statistic Research frontier 1 supporting source confidence 97% novelty 60%

Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥

A source reports “2.5%” in the context of general: “Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4) freemix contamination estimate ≤2.5%, (5) percent chimeric reads ≤2%, and (6) the genetically im”

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:2.5%. 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 (2 quotes)

Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the UK pediatric diabetes population with monogenic diabetes.
Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4) freemix contamination estimate ≤2.5%, (5) percent chimeric reads ≤2%, and (6) the genetically imputed sex matching with self-reported sex.

Supporting documents (2)

DocumentSourcePublishedSeenRelevance
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pmc 2024-01-01 yesterday 1.00
Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 yesterday 1.00