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

2024-10-10 genetic and genomic medicine Title + abstract only

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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 has not been established. Transformation of the qualitative classification guidelin...

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

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