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Article

A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification.

Human genetics - 26 Mar 2026

Moghadasi Setareh, Monajemi Ramin, Braspenning Merel E, Vreeswijk Maaike P G, Rodríguez-Girondo Mar

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...

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Identifiers

PMID: 41882377
DOI: 10.1007/s00439-025-02816-z
PMCID: PMC13018082

Genes

BRCA1
BRCA2
PALB2

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