Article

DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus

2023-04-11

Abstract excerpt

<h4>ABSTRACT</h4> Single nucleotide variants are the most frequent type of sequence changes detected in the genome and these are frequently variants of uncertain significance (VUS). VUS are changes in DNA for which disease risk association is unknown. Thus, methods that classify the functional impact of a VUS can be used as evidence for variant interpretation. In the case of the breast and ovarian cancer specific...

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Literature Corpus work: 8176f102-6f2b-51f2-9e45-6e56dcb09777
DOI: 10.1101/2023.04.10.536331

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