CNV interpretation using DECIPHER
In this video, you will watch an example of how to use the DECIPHER platform to analyze a five-year-old female patient with a de novo heterozygous deletion on chromosome 11.
You will learn how to input CNV coordinates into DECIPHER to retrieve overlapping patient variants, gene information, and relevant predictive scores. You will also learn how to apply the Genome Browser to explore genomic regions in more detail, applying filters to examine pathogenic CNVs and relevant datasets.
Let us know in the comments what other tools you could use to assess CNVs. Do you have any tips and tricks to share?
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
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