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Identifying variants

Sanjeev Bhaskar video 2

We asked Sanjeev about the steps that are taken to identify specific variants within the sequencing data for an autosomal recessive case.

In the video provided by the Manchester Centre for Genomic Medicine, he discusses the following:

  • Approach for a Homozygous and Compound Heterozygous event

  • The use of published evidence – internally and externally

  • What happens when new evidence is found

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Clinical Bioinformatics: Unlocking Genomics in Healthcare

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