-- Idea is simply to create a persistent database of all TP/FP sites on chr20 in NA12878. Individual callsets can be imported, and a consensus algorithm is run over all callsets in the database to create a consensus collection, which can be used to assess NA12878 callsets for GATK and methods development
-- Framework for representing simple VariantContexts and Genotypes in MongoDB, querying for records, and iterating over them in the GATK
-- Not hooked up to Tribble, but could be done reasonably easily now (future TODO)
-- Tools to import callsets, create consensus callsets, import and export reviews
-- Scripts to reset the knowledge base and repopulate it with the standard data files (Eric will expand)
-- Actually scales to all of chr20, includes AssessNA12878 that reads a VCF and itemizes it against the truth data set
-- ImportCallset can load OMNI, HM3, CEU best practices, mills/devine sites and genotypes, properly marking sites as poly/mono/unk as well as TP/FP/UNK based on command line parameters
-- Added shell scripts that start up a local mongo db, that connect to a local or BI hosted mongo for NA12878.db for debugging, and a setupNA12878db script that can load OMNI, HM3, CEU best practices, Mills/Devine into the db and then update the consensus.
-- Reviewed sites can be exported to a VCF, and imported again, as a mechanism to safely store the only non-recoverable data from the Mongo DB.
-- Created a NA12878DBWalker that manages the outer DB interaction, and that all MongoDB interacting walkers inherit from. Added a NA12878DBArgumentCollection.java consolating all of the common command line arguments (though strictly not necessary as all of this occurs in the root walker)
UnitTests
-- Can connect to a test knowledge base for development and unit testing
-- PolymorphicStatus, TruthStatus, SiteIterator
-- NA12878KBUnitTestBase provides simple utilities for connecting to the test mongo db, getting calls, etc
-- MongoVariantContext tests creation, matching, and encoding -> writing -> read -> decoding from the mongodb
AssessNA12878
-- Generic tool for comparing a NA12878 callset against the knowledge base. See http://gatkforums.broadinstitute.org/discussion/1848/using-the-na12878-knowledge-base for detailed documentation
-- Performs trivial filtering on FS, MQ, QD for SNPs and non-SNPs to separate out variants likely to be filtered from those that are honest-to-goodness FPs
Misc
-- Ability to provide Description for Simplified GATK report
ReduceReads now co-reduces bams if they're passed in toghether with multiple -I. Co-reduction forces every variant region in one sample to be a variant region in all samples.
Also:
* Added integrationtest for co-reduction
* Fixed bug with new no-recalculation implementation of the marksites object where the last object wasn't being removed after finalizing a variant region (updated MD5's accordingly)
DEV-200 #resolve #time 8m
Removed some generics from PluginManager for now until able to figure out syntax for requesting explicit subclass.
QStatusMessenger uses a slightly more primitive Map[String, Seq[RemoteFile]] instead of Map[ArgumentSource, Seq[RemoteFile]].
Added an QCommandPlugin.initScript utility method for handling specialized script types.
numbers larger than 999 in the Errors column were printed out with commas (which looks like a separate column).
This wasn't caught earlier because there are no integration tests covering the csv. I'll add one into unstable in a sec.
Menachem Fromer
Ryan Poplin
Eric Banks
Mark DePristo
David Roazen
Joel Thibault
Guillermo del Angel
Mauricio Carneiro
Kristian Cibulskis
Douglas Voet
Scott Frazer
kshakir