5a6892900e
fixing oddities in duplicates
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@628 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-07 18:55:45 +00:00
4a26f35caa
new default syntax
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@627 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-07 18:16:53 +00:00
283a4d1b54
Fix some special-case cleaner issues.
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We now do the same as brute force in all examples to date.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@626 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-07 18:16:35 +00:00
2204be43eb
System for traversing duplicate reads, along with a walker to compute quality scores among duplicates and a smarter method to combine quality scores across duplicates -- v1
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@624 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-07 18:06:02 +00:00
752928df94
Switch to better mechanism for supplying a default.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@615 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-07 01:22:01 +00:00
072808858e
added COUNT_CUTOFF arg: it is nor possible to tell the code to try to realign all read piles over trains of nearby indels with at least one indel observed in COUNT_CUTOFF or more different alignments (set the arg to 1 to realign around all indels); also, some diagnostic printouts added to the output (time spent on loading the reference, time spent on scrolling through the input bam file, counts of discarded reads)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@611 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-06 21:59:33 +00:00
5be75e0ae6
First version of indel cleaner walker that works on intervals
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@607 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-06 20:20:48 +00:00
521aa40baa
Bring new command-line argument parsing system live.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@603 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-06 18:16:11 +00:00
b0cdba8bb3
Acting on Kiran's suggestion to make the doc tag in the @Argument annotation required.x
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@598 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-05 22:43:40 +00:00
8925df2e1e
More information from the duplicate combiner quality metrics
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@590 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-04 21:51:01 +00:00
2b6466ea00
coverage calculator based on Gabor's Pilot 3 Coverage Metrics
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@589 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-04 14:18:16 +00:00
df88c4d6b0
Added some code to determine the on-genotype and off-genotype secondary base distributions (which, at the moment, is commented out).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@582 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-01 06:48:19 +00:00
e7534b292f
Optionally applies secondary base distribution priors to normal single-sample genotyper posteriors.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@581 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-01 06:36:32 +00:00
58c80d8d87
For on and off-genotype primary bases, optionally compute the concordance of the secondary bases to their expected distributions. Each genotype has slightly different profiles.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@580 348d0f76-0448-11de-a6fe-93d51630548a
2009-05-01 06:33:48 +00:00
84dae06d5a
Initial version of ByDuplicates traversal, as well as a duplicate quality score estimator
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@576 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-30 22:16:21 +00:00
b630f2f2f1
More tables output by CovariateCounterWalker AND made CovariateCounterWalker and LogisticRecalibration aware of positive and negative strandedness of data which changes the regression output significantly.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@568 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-30 01:22:50 +00:00
0a707a887b
Added ability to evaluate best + random base.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@564 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-29 20:05:36 +00:00
334f158e5a
added parameters for mapping quality and duplicate filters
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@563 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-29 18:05:34 +00:00
7de5da7065
Start getting the cleaner working in Walker
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@561 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-29 14:59:53 +00:00
f557da0a78
Calculate interval-based statistics for Hybrid Selection
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@558 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-29 04:01:24 +00:00
58b2578c44
Several changes to CovariateCounter walker to print more tables (called vs. observed Q scores), bug fixes to LogisticRecalibrationWalker and LogisticRegressor, and print string functionality added to Pair.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@550 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-28 00:37:48 +00:00
a0a581171b
print out the last interval
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@549 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-27 20:43:06 +00:00
a343f3eab7
Fixed bug where we weren't setting the reads group correctly. Also added code to set the printMetrics field of the singleSampleGenotyper from the Pool caller, it was null excepting out for me without that set.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@548 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-27 15:17:20 +00:00
1daf8e0987
A utility to compare the results of the SingleSampleGenotyper in 1-base and 4-base mode.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@547 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-27 15:10:08 +00:00
444bc18183
Removed binomialProb() method. Set better values for qHom, qHet, and qHomNonRef and allowed those to be set from the command-line.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@546 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-27 15:09:02 +00:00
0c76a70313
Renamed traversal by "interval" to "locusWindow"
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@537 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-26 02:26:08 +00:00
40a2b3eeb3
Basic logistic regression support for calibrating qualities; mostly for Andrew to experiment with
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@529 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 19:09:50 +00:00
061f4328b1
Covariate counter now outputs files used by R to do logistic regression.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@527 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 17:11:57 +00:00
4e4fd33584
First draft of actual pooled EM caller.
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Produces sane looking output on region of 1kG pilot1:
CALL NA12813.SRP000031.2009_02.bam CC 0.609084 0.609084
CALL NA12003.SRP000031.2009_02.bam CC 2.114234 2.114234 CCCCC
CALL NA06994.SRP000031.2009_02.bam CC 0.910114 0.910114 C
CALL NA18940.SRP000031.2009_02.bam CT 2.589749 0.910114 T
CALL NA18555.SRP000031.2009_02.bam CC 0.609084 0.609084
Next up, eval vs. Baseline pilot1 calls and pilot3 deep-coverage truth.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@526 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 13:43:41 +00:00
dd408a2a9a
First draft of actual pooled EM caller.
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Produces sane looking output on region of 1kG pilot1:
CALL NA12813.SRP000031.2009_02.bam CC 0.609084 0.609084
CALL NA12003.SRP000031.2009_02.bam CC 2.114234 2.114234 CCCCC
CALL NA06994.SRP000031.2009_02.bam CC 0.910114 0.910114 C
CALL NA18940.SRP000031.2009_02.bam CT 2.589749 0.910114 T
CALL NA18555.SRP000031.2009_02.bam CC 0.609084 0.609084
Next up, eval vs. Baseline pilot1 calls and pilot3 deep-coverage truth.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@525 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 13:42:15 +00:00
13d4692d2e
1. Added a by-interval traversal.
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2. Added a shell for the indel cleaner walker (it's currently being used to test the interval traversal).
3. Fixed small bug in downsampling (make sure to downsample the offsets too)
4. GenomeAnalysisTK.execute => anyone object to my change to "instanceof" instead of trying to catch a ClassCastException (yuck)?
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@524 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 04:33:35 +00:00
1984bb2d13
Made num_loci_total public because I'm lazy. I'll change it back later.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@523 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 03:57:23 +00:00
7ce11e152b
Simplified. Added option to perform four-base retest of a putative variant.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@522 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-24 03:56:15 +00:00
3dc2afd7ab
Added the ability to get a merged header in a LociByReference traversal
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@514 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 20:34:52 +00:00
32715a6c47
First check-in of walker that produces tables showing covariation of read cycle, and dinucleotide with quality score in a format usable for R analysis and for doing logistic regression.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@510 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 18:58:25 +00:00
cae54ec52d
Walker for creating intervals to be used in the indel cleaner
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@508 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 17:58:19 +00:00
96db1477d4
I meant for default lod threshold to be 5.0, not 0.0.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@507 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 17:46:08 +00:00
11e85f1969
Four-base mode now estimates the genotype using the one-base method and retests the site if the one-base method suggests the site is a het.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@503 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 17:23:24 +00:00
bd719f9c06
When checking that values are not infinite, also prints out the position so that I know which site was giving the error and I can just go there and debug it.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@502 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 17:21:58 +00:00
efba30f1a1
Added a constructor in which the lod threshold can be set.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@501 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 17:20:48 +00:00
8c1905c7d9
Simple walker to print all of the sample names present in a merged bam file.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@500 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-23 12:26:56 +00:00
a3a1c9dae8
Suppressed emission of duplicate paths through a four-base pileup.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@498 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-22 21:08:45 +00:00
6cef8bd76c
added k-best quality path enumeration.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@497 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-22 20:26:51 +00:00
d99d67d51c
Refactored to clean it up a bit
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@495 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-22 19:18:46 +00:00
ffcd672c1c
Intermediate commit while working on getting four-base probs to work in the single sample genotyper. Has infrastructure for the new combinatorial approach and just choosing the best base more intelligently given a probability distribution over bases and the reference base.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@492 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-22 18:06:50 +00:00
5f37ba8f26
now can be asked to log at INFO level all concordant or discordant sites, or both
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@480 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-21 21:03:44 +00:00
1f84b9647d
auxiliary data structure for mendelian concordance reporting; it's nice to have the latest version checked in in order for the code to compile...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@479 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-21 21:02:40 +00:00
ece3e9969e
one trivial walker to filter reads; bam in -> filter -> bam out
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@478 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-21 20:39:29 +00:00
61e855200d
latest version...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@477 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-21 20:38:37 +00:00
64b2fd866f
* extracted core quality-score based genotype likelihood code
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* precompute expensive operations (log/pow) based on Picard experience
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@476 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-21 18:58:43 +00:00
depristo
ebanks
hanna
asivache
kcibul
kiran
andrewk
aaron
jmaguire