New publication
Genes & inheritance
1 supporting source
confidence 97%
novelty 75%
Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
How this was derived
Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).
Generated 2026-11-13, last changed
yesterday. Dedup key newdoc:379.
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)
Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
peer_reviewed
· published 2025-01-01
· live page
Inherited VUS CNVs involving multiple exons of HI/TS genes either with established or emerging evidence, and unreported in population databases Of 51 inherited VUS CNVs, four inherited VUS CNVs were not reported in population databases but involves multiple exons of HI/TS genes either with established or emerging evidence such as TP63 , NSDHL and DMD .
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Parent-of-origin testing of prenatal copy number variations: a retr... | pmc | 2025-01-01 | yesterday | 1.00 |