0.0.0
Pre-release
Pre-release
arahuja
released this
19 Dec 23:46
·
855 commits
to master
since this release
This is the first release of Guacamole!
The “somatic-standard” caller from this release competed in the ICGC-TCGA DREAM Mutation Calling Challenge (“guacamole.stock” on the Synthetic Challenge 4 Leaderboard).
This release focuses on:
- Infrastructure for working with aligned reads conveniently on Spark. Much of this is in DistributedUtil. This is implemented as a collection of higher-order functions that run a user supplied routine over the reads aligned to each genomic locus.
- The “somatic-standard” caller, a basic somatic variant caller that identifies somatic SNVs and indels by filtering the reads in various ways, applying a likelihood model to the tumor and normal pileups separately, calling variants where the likelihoods differ significantly, and optionally applying additional filters to the called variants.