Challenges with processing genomic data

The cost of sequencing a whole human genome has been reduced to less than $1000, making genomic sequencing a part of our regular healthcare. Organizations such as Genomics England in the UK have proposed research initiatives such as the 100,000 Genomes Project to sequence large cohorts to understand how genetic variation is impacting the population. There are similar initiatives underway around the world, in the USA, Australia, and France. A common application of population-scale sequencing is for genome-wide association studies (GWAS). In these studies, scientists look at the entire genome of a large population searching for small variations to help identify particular diseases or traits. While this is extremely promising, it does introduce the technical problem of processing all this data that gets generated as part of the genomic sequencing process, especially when we are talking about sequencing hundreds of thousands of people.

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