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BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants.

Familial cancer - 15 Nov 2024

Vatsyayan Aastha, Anu R I, Mathur Prerika, Uchil Divya, Joshi Ashish, Dwivedi Aradhana, Sirohi Bhawna, Mathew Aju, Damodaran Dileep, Panda Soumya Surath, Kolluri Spoorthy, Ayillath Shaji K, Amalnath Deepak, Shankar Gomathi, Pandhare Kavita, Scaria Vinod

Abstract excerpt

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 been limited by the lack of resources providing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39546087
DOI: 10.1007/s10689-024-00429-5

Genes

BRCA1
BRCA2

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