Synopsis: Since the emergence of sequencing technologies, an increase in genetic variants associated with the same common trait has been observed. In this presentation, Dr. Gabriel notes that sequencing technologies can be harnessed to conduct comprehensive genome-wide association studies. Dr. Gabriel lays out a framework for large-scale sequencing methods that move away from SNP genotying by focusing on the human exome.  Using the exome results in a more tractable variant space for data analysis, and the accuracy associated with using the exome is far greater than when using the entire genome. This presentation outlines a sequencing protocol that is capable of evaluating a large number of samples at a production scale. It is envisioned that large scale sequencing protocols, focusing on key target regions such as the exome, will be the next step towards studying genetic variations in diseases across larger populations at economical costs.
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