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Designing the analysis pipeline

We asked Sanjeev about the steps taken to identify a specific variant within the sequencing data associated

Within the video, provided by the Manchester Centre for Genomic Medicine, Sandy describes the process of aligning the individual short reads back to the human reference genome, and calling variants, which means identifying where there is a different nucleotide in comparison to the reference sequence.

Finally he discusses variant annotation which is the process of discovering where the variant is located in terms of chromosome and gene and also what kind of variant it is (i.e. synonymous/non-synonymous).

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Clinical Bioinformatics: Unlocking Genomics in Healthcare

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