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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Typically mosaic #7682

Closed pnrobinson closed 6 months ago

pnrobinson commented 1 year ago

@angharadroberts

This is the proposed definition in the genCC document:

Description of conditions in which, for example, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. A much lower variant allele fraction (VAF) cutoff would be needed in analysis pipelines.

I think this definition is too narrow, because there are also somatic disorders in which affected persons typically have milder presentations of disease than do those who carry the mutation in their germ-line

The introduction to this article (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952/) provides definitions and references.

For now, I am relabelling the term Autosomal dominant somatic cell mutation HP:0001444 to to the modifier section, but I think this topic might still require some discussion.

pnrobinson commented 6 months ago

closing, this was implemented