Commit Graph

12 Commits (eafb4633ba3cb4f05caddda62dc7a72ba37f52cb)

Author SHA1 Message Date
jmaguire 961dbbd4ef Now output bases and qhat and qstar into the GFF.
Quals coming soon (four-base)

QHAT  : Most likely alt allele freq (unconstrained by number of chromosomes).
QSTAR : Most likely alt allele freq (constrained by number of chromosomes).





git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@402 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-14 15:23:00 +00:00
jmaguire 6652f13a17 more verbose gff output!
EVEN MORE verbosity to come! 

Tremble in anticipation.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@382 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-13 15:21:23 +00:00
jmaguire 6e180ed44e Unified caller is go.
AlleleFrequencyWalker and related classes work equally well for 2 or 200 chromosomes. 

Single Sample Calling:

	Allele Frequency Metrics (LOD >= 5)
	-------------------------------------------------
	Total loci                            : 171575
	Total called with confidence          : 168615 (98.27%)
	Number of variants                    : 111 (0.07%) (1/1519)
	Fraction of variant sites in dbSNP    : 87.39%
	-------------------------------------------------
	
    Hapmap metrics are coming up all zero. Will fix.

Pooled Calling:

	AAF r-squared after EM is 0.99. 
    AAF r-squared after EM for alleles < 20% (in pools of ~100-200 chromosomes) is 0.95 (0.75 before EM)

    Still not using fractional genotype counts in EM. That should improve r-squared for low frequency alleles.


Chores still outstanding:
    - make a real pooled caller walker (as opposed to my experiment framework).
    - add fractional genotype counts to EM cycle.
    - add pool metrics to the metrics class? *shrug* we don't really have truth outside of a contrived experiment...



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@380 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-13 12:29:51 +00:00
andrewk e3ac0cb500 - A lot of code cleaned up; separated metrics code from AlleleFrequencyMetricsWalker into AlleleMetrics and eliminated the former class. AFMW (aside from being a name so long that it warrants an acronym) can now be implemented by passing an option to AlleleFreqeuncyWalker that logs metrics to a file.
- AlleleMetrics and AlleleMetricrsWalker are now ready to take a list of clasess that implement the AllelicVariant interface
- Switched a genome location in AlleleFrequencyEstimate from String to GenomeLoc which makes way more sense.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@280 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-03 02:09:10 +00:00
depristo 2cd9a1597f Simple improvements to allele caller
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@254 348d0f76-0448-11de-a6fe-93d51630548a
2009-04-02 14:09:14 +00:00
jmaguire ede52f7359 - take command line arguments
- output GFF lines to a file (specified by a command line argument)
- improve the GFF output string


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@240 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-31 18:43:00 +00:00
jmaguire 875802e8fc print output as a GFF line.
still need to add printing GFF intervals for stretches of confident reference calls.

does the GFF ROD class handle intervals?? We'll find out. >:)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@225 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-30 17:47:35 +00:00
andrewk 0331cd8e95 Updated AlleleFrequency* classes to calculate separate lods for VarVsRef and BestVsNextBest mixture (qstar) theories; AFWMetrics now reports single sample performance w.r.t. Hapmap chip using the appropriate lod for gentoyping (BestVsNextBest) or variant / reference calling (VarVsRef).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@196 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-26 02:10:18 +00:00
jmaguire 44acc358b7 Add a "notes" member to the AlleleFreqencyEstimate, e.g. for hapmap metadata.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@188 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-25 15:18:10 +00:00
andrewk 30babbf5b9 Restructured AlleleFrequencyMetricsWalker to correctly report Hapmap concordance numbers for genotyping and added reporting for Hapmap reference/variant calling. Also, tiny bugfix in interval code.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@181 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-25 01:12:05 +00:00
andrewk 9dee9ab51c Added Hapmap data track (using rodGFF class for GFF file format) to toolkit as a command line option, Hapmap metrics to AlleleFrequencyMetricsWalker, and a python Geli2GFF file converter.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@163 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-24 03:58:03 +00:00
hanna 63cd1fe201 Push core / playground lower into the tree.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@160 348d0f76-0448-11de-a6fe-93d51630548a
2009-03-23 23:19:54 +00:00