Article

BRCAIndica: a Resource for ACMG/AMP classified BRCA1 and BRCA2 Variants

2024-04-25

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold>: As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely bee...

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Literature Corpus work: 133c77bd-71f3-5504-85b7-9f07e9b14e63
DOI: 10.21203/rs.3.rs-4297655/v1

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