FAQ
Does a Mendelian error mean “false positive”?
Not necessarily. Mendelian errors include: - technical artifacts - true de novo CNVs
De novo CNVs are rare, so Mendelian errors are enriched for artifacts, but validation is required.
What overlap threshold should I use?
A common default is reciprocal overlap ≥50%.
You may increase it for strict matching or decrease it when breakpoints are noisy.
Can I use MCNV2 on WES or arrays?
Yes. MCNV2 is technology-agnostic as long as CNVs are provided in the standard tabular format and trios are available.