Definitions

Copy Number Variation CNV: CNV are deletions or duplications of genomic regions greater than or equal to 1000 nucleotides and can encompass one or more genes.

Trio: offspring + mother + father.

Inherited: present in offspring and ≥1 parent.

Mendelian error: present in offspring, absent in both parents.

Mendelian Precision (MP): proportion of inherited CNVs among all offspring CNVs.

Reciprocal overlap: overlap(child,parent)/len(child) and overlap(child,parent)/len(parent).

LOEUF: gnomAD constraint score; lower values indicate stronger constraint.

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MP formula

(1)\[MP = \frac{I}{N}\]

Where: - I = Inherited CNVs - N = Total CNVs