SOPHiA Clinical Exome Solution for rare disorder assessment: from identification to interpretation
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This talk focuses on ways SOPHiA Clinical Exome Solution V3 (CES V3) and Alamut Visual Plus™ support in-depth, reliable investigation of genomic variants associated with rare and inherited disorders. The CES V3 end-to-end workflow enables the identification and exploration of SNVs, Indels, CNVs, and non-coding variants in a unique experiment, while it offers full coverage of the mitochondrial genome. CES V3 leverages the SOPHiA DDM™ platform for analysis, prioritization, and reporting of disorder-causing genomic variants, making complicated and labor-intensive research efforts simpler. Further, accelerating rare disorder variant interpretation and annotation in a consolidated and consistent approach is supported by Alamut Visual Plus™ - full-genome browser employing numerous curated genomic and literature databases, guidelines, missense, and splicing predictors.