Article

The effect of ascertainment on penetrance estimates for rare variants: implications for establishing pathogenicity and for genetic counselling

2023-02-21

Abstract excerpt

Next-generation sequencing has led to an explosion of genetic findings for many rare diseases. However, most of the variants identified are very rare and were identified in small pedigrees, which creates challenges in terms of penetrance estimation and translation into genetic counselling in the setting of cascade testing. We use simulations to show that for a rare (dominant) disorder where a variant is identified...

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Literature Corpus work: 1c7c0dec-ccb5-5d01-af16-ea1e69272e0b
DOI: 10.1101/2023.02.17.528910

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