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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples fromBRCA1andBRCA2

2022-11-13

Abstract excerpt

There have been many surveys of genetic variation in BRCA1 and BRCA2 to identify variant prevalence and catalogue population specific variants, yet none have evaluated the magnitude of unobserved variation. We applied species richness estimation methods from ecology to estimate “variant richness” and determine how many germline pathogenic BRCA1/2 variants have yet to be identified and the frequency of these missin...

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Literature Corpus work: cb1ca9ea-409c-5055-9c90-95ed49b1f4f1
DOI: 10.1101/2022.11.09.22282146

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from<i>BRCA1</i>and<i>BRCA2</i>

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