- Adapted to get the trio information from the SampleDB (i.e. from Pedigree file (ped)) => Multiple trios can be passed as argument
- Mendelian violations and trio phasing possibilities are pre-calculated and stored in Maps. => Runtime is ~3x faster
- Genotype combinations possible only given two MVs are now given a squared MV prior (e.g. 0/0+0/0=>1/1 is given 10^-16 prior if the MV prior is 10^-8)
- Corrected bug: In case the best genotype combination is Het/Het/Het, the genotypes are now set appropriately (before original genotypes were left even if they weren't Het/Het/Het)
- Basic reporting added:
-- mvf argument let the user specify a file to report remaining MVs
-- When the walker ends, some basic stats about the genotype reconfiguration and phasing are output
Known problems:
- GQ is not recalculated even if the genotype changes
Possible improvements:
- Phase partially typed trios
- Use standard Allele/Genotype Classes for the storage of the pre-calculated phase
-- Creates all combinatinos of overlapping and non-overlapping read pair pileups in all orientations and first/second pairings to validate fragment detection.
This commit contains:
- IntronLossGenotyper is brought into its current incarnation
- A couple of simple new filters (ReadName is super useful for debugging, MateUnmapped is useful for selecting out reads that may have a relevant unaligned mate)
- RFA now matches my current local repository. It's in flux since I'm transitioning to the new traversal type.
+ the triggering read stash pilot required me to change the scope of some of the variables in the ReadClipping code, private -> protected. Those are all the changes there.
- MendelianViolation restored to its former glory (and an annotator module that uses the likelihood calculation has been added)
+ use this rather than a hard GQ threshold if you're doing MV analyses.
- Some miscellaneous QScripts
-- all of the methods in the class must be synchronized or the internal state can be inconsistent with the contract invariant when entering the class in a non-synchronized method, even when that method doesn't care about the object's internal state
The test was successful -- the packaging error was detected and
prevented from propagating out into the binary/source releases.
This reverts commit 8f2a1462d94ce50fb7c1b1d0c40142b109e9c38e.
Mark DePristo
Mauricio Carneiro
Laurent Francioli
Christopher Hartl
Eric Banks
Ryan Poplin
Menachem Fromer
David Roazen