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A Comprehensive and Accessible Model for Co-Segregation Analysis in <i>BRCA1, BRCA2</i> , and <i>PALB2</i> Variant Classification

2024-09-24

Abstract excerpt

Variants of uncertain significance (VUS) are genetic variations with unclear clinical implications, often complicating clinical management in genetic testing. The analysis of co-segregation of the variant with the disease in families has been shown to be a powerful tool for the classification of these variants. We present CAL-Leiden (Co-segregation Analysis via Likelihood ratio analysis-Leiden), a comprehensive co...

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Literature Corpus work
1a909913-9a29-526f-8465-1bcbda848a20
DOI
10.1101/2024.09.23.614309
Open publication

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A Comprehensive and Accessible Model for Co-Segregation Analysis in <i>BRCA1, BRCA2</i> , and <i>PALB2</i> Variant ClassificationDOI 10.1101/2024.09.23.614309
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