Big Data Meetup – A Success!
Our inaugural Meetup event, “Dipping into Guacamole — A Spark-Powered Somatic Variant Caller,” collected many bright minds to Phosphorus headquarters this past Thursday night for an engaging presentation and friendly mingling. Participants were treated to a presentation by Tim O’Donnell of Hammer Lab at Mount Sinai, who spoke about their open-source somatic variant caller, Guacamole.
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. Tim detailed the platform’s architecture, which is built on Apache Spark, sharing some results from using Guacamole, as well as background on various architectural and implementation strategies.
At the close of the presentation, attendants had time to discuss their thoughts and get acquainted with others in the NYC tech world over pizza, beer — and of course chips and guacamole!
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
Please feel free to share some of your own suggestions in the comment section at the bottom of the page!