Dipping into Guacamole — A Spark-Powered Somatic Variant Caller

Phosphorus
Aug 22, 2017 · 1 min read

Tim O’Donnell of Hammer Lab at Mount Sinai recently spoke at Phosphorus about the open-source somatic variant caller, Guacamole, which is built on Apache Spark.

Somatic mutations are not genetically inherited, but are instead frequently acquired through environmental factors, such as UV exposure or harmful chemicals, and these mutations can be reproduced in cell division, making them an important part of cancer diagnostics.

For more information about Guacamole, you can find the project on Github. You can also check out the video of Tim O’Donnell’s talk below, as well as the slides from the presentation.

The following list includes even more wonderful recommendations for genetics resources from Tim and others:

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Phosphorus is a computational genomics company with the vision to create a world where every healthcare decision is optimized with genomics.

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