Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

The same genetic variant found in different individuals can cause a range of diverse phenotypes, from no discernible clinical phenotype to severe disease, even among related individuals. Such variants can be said to display incomplete penetrance, a binary phenomenon where the genotype either causes...

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Vydané v:	Frontiers in genetics Ročník 13; s. 920390
Hlavní autori:	Kingdom, Rebecca, Wright, Caroline F.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Switzerland Frontiers Media S.A 25.07.2022
Predmet:	expressivity Genetics genomic sequencing penetrance rare disease variant intepretation genomic sequencing variant intepretation rare disease expressivity penetrance
ISSN:	1664-8021, 1664-8021
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