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How to analyse CNVs using Genome Browser

Video tutorial showing how to use UCSC Genome Browser

In the example in this video, Erin Riggs from Geisinger shows you how to use the UCSC Genome Browser to analyse a de novo deletion on chromosome 9q in a five-year-old with developmental delay and dysmorphic features.

You will also learn how to include predictions from DECIPHER, assess protein-coding genes, and case-level evidence from the literature.

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Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations

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