Computational analysis of genetic variation

Matthew Arnell Field
High throughput sequences are generating increasingly detailed catalogues of genetic variation both in human disease and within the larger population. To effectively utilise this rich data set for maximum research benefit, as a discipline we require robust, flexible, and reproducible analysis pipelines capable of accurately detecting and prioritising variants. While data-specific computational algorithms aimed at deriving accurate data from these technologies have reached maturity, two major challenges remain in order to realise the goals of...
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