Article

AVENGERS: Analysis of Variant Effects using Next Generation sequencing to Enhance <i>BRCA2</i> Stratification

2023-12-15

Abstract excerpt

Accurate interpretation of genetic variation is a critical step towards realizing the potential of precision medicine. Sequencing-based genetic tests have uncovered a vast array of BRCA2 sequence variants. Due to limited clinical, familial and/or epidemiological data, thousands of variants are considered to be variants of uncertain significance (VUS). To determine the functional impact of VUSs, here we develop AV...

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Literature Corpus work: 2b560a67-9f89-578d-8c13-352458b245a6
DOI: 10.1101/2023.12.14.571713

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