Article

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.

2024-10-10

Abstract excerpt

Classification of genetic variants remains an obstacle to realizing the full potential of clinical genetic sequencing. Because of their ability to interrogate large numbers of variants, multiplexed assays of variant effect (MAVEs) and computational tools are viewed as a critical part of the solution to variant classification uncertainty. However, the (joint) performance of these assays and tools on novel variants...

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Literature Corpus work: caadfc49-71a9-52cd-ab47-4f36dd0e6c42
DOI: 10.1101/2024.10.09.24315186

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