Article

How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?

2023-10-06

Abstract excerpt

Incomplete penetrance is the rule rather than the exception in Mendelian disease. In syndromic monogenic disorders, phenotypic variability can be viewed as the combination of incomplete penetrance for each of multiple independent clinical features. Within genetically identical individuals, such as isogenic model organisms, stochastic variation at molecular and cellular levels is the primary cause of incomplete pen...

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Literature Corpus work: c6d4f1e3-4389-5951-b05a-dc3286767730
DOI: 10.1101/2023.10.04.560918

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