Article

The penetrance of age-related monogenic disease depends on ascertainment context

2021-07-01

Abstract excerpt

<h4>BACKGROUND</h4> Accurate penetrance of monogenic disorders is often unknown due to a phenotype-first approach to genetic testing. Here, we use a genotype-first approach in four large cohorts with different ascertainment contexts to accurately estimate penetrance of the three commonest causes of monogenic diabetes, Maturity Onset Diabetes of the Young (MODY). We contrast HNF1A- MODY / HNF4A -MODY which causes a...

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Literature Corpus work: 4b7b297d-05a7-5f06-8efe-12def3455d04
DOI: 10.1101/2021.06.28.21259641

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