Dipping into Guacamole — A Spark-Powered Somatic Variant Caller

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:

• Introduction to Genomics
• Human Molecular Genetics
• Exploring Personal Genomics
• A Genetic Switch: Phage Lambda Revisited
• RNA: Life’s Indispensable MoleculeThe Epigenetics Revolution
• The Eighth Day of Creation