Children’s Healthcare of Atlanta; NextGen Sequencing using Hadoop, Spark, & Kudu


Details
In 2017, Children’s Healthcare of Atlanta undertook Next Generation Sequencing (NGS) as a new initiative. Using open-source tools such as Hail, Apache Spark and Apache Kudu, Children’s built a robust, scalable and secure platform to support NGS in the clinical setting. The resulting infrastructure, which co-locates genomic and phenotypic data, enables variant review and sign out as well as analytics and translational medicine using familiar tools like SQL. The platform comprises the entire clinical pipeline from raw reads to HGVS-called variants, informative QC and variant reports and data storage in Hail VDS’s in a Kudu storage layer in Hadoop. The upstream data is then presented to the clinician in a friendly web application for streamlined variant review and sign out.
Remember you can always support CHOA by donating your time or money. https://www.choa.org/donors-and-volunteers/ways-to-give
This meet-up will take place at Piedmont Center - Building 15 - 3575 Piedmont Rd, Suite P140 · Atlanta, GA. Food and Drinks will be provided one our sponsors. Casual Conversation from 6:15 to 6:45, Presentation will start @ 6:45. Look forward to seeing everyone on the 19th.

Children’s Healthcare of Atlanta; NextGen Sequencing using Hadoop, Spark, & Kudu