Genomics isn&#x27;t Special

DNA sequencing is producing a wave of data which will change the way that drugs are developed, patients diagnosed, and our understanding of human biology. To fulfill this promise, however, the tools for interpretation and analysis must scale to match the quantity and diversity of "big data genomics." ADAM is an open-source genomics processing engine, built using Spark, Apache Avro, and Parquet. This talk will discuss some of the advantages that the Spark platform brings to genomics, the benefits of using technologies like Parquet in conjunction with Spark, and the challenges of adapting new technologies for existing tools in bioinformatics. These are slides for a talk given at the Apache Spark Meetup in Boston on October 20, 2014.

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Genomics is mapping complex data about human biology and promises major medical advances. In particular, genomics is enabling precision medicine, the use of a patient's genome and physiological state to improve therapeutic efficacy and outcome. However, routine use of genomics data in medical research is in its infancy, due mainly to the challenges of working with "Big data". These data are so complex and large that typical researchers are not able to cope with them. Collectively, these data require an understanding of many aspects of experimental biology and medicine to correctly process and interpret. Data size is also an issue, as individual researchers may need to handle tens of terabytes (genomes from a few hundred patients), which is challenging to download and store on typical workstations. To effectively support precision medicine, scientists from a wide range of disciplines, including computer science, must develop algorithms to improve precision medicine (e.g. diagnostics and prognostics), genome interpretation, raw data processing and secure high performance computing.

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