Using DECIPHER for SNV interpretation
In this video, learn from Dr Julia Foreman how to interpret sequence variants using DECIPHER. You will watch a tutorial for two examples showing how to use DECIPHER to identify and classify pathogenic variants in the MED13L and FOXG1 genes. The platform’s tools and integrations with resources like ClinVar and ClinGen help compare patient data, assess variant pathogenicity, and share the findings.
Try and test this example yourself and let us know in the comments your interpretation.
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
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