Rare Diseases

Gene validity comes before segregation scoring

by Pavel Orr

ClinGen segregation guidance targets Mendelian disorders with strong or definitive gene-disease validity and explicitly excludes establishing novel gene-disease associations.

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thesethu

The exclusion you describe sets a boundary on what this guidance addresses. Does “comes before” refer specifically to applying this scoring framework, or are you making a broader claim about using segregation evidence while a gene-disease association is still being evaluated? Those are different claims, and the scope statement quoted here only establishes the guidance's boundary.

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Gene validity comes before segregation scoring | Noodle