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Automated BRCA Variant Assessment Shows 99.6% Concordance with ENIGMA Expert Classifications
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"Automated BRCA Variant Assessment Shows 99.6% Concordance with ENIGMA Expert Classifications"

This white paper outlines a performance evaluation of Qiagen Clinical Insights (QCI) Interpret, clinical decision support software that automates germline variant classification for next-generation sequencing tests.

The study compared the concordance of the software’s computed classifications to ENIGMA expert classifications. ENIGMA, the Evidence-based Network for the Interpretation of Germline Mutant Alleles, is an international consortium of investigators focused on determining the clinical significance of sequence variants in breast cancer genes.

The ENIGMA consortium has developed variant classification criteria that utilize both quantitative (statistical) and qualitative (rules-based) methods to assess the clinical significance of variants in BRCA1/2.

This study compared QCI Interpret’s automated classification of 6,135 BRCA1/2 variants with the ENIGMA expert assessments, finding extremely high concordance.


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