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Implement sample variant annotation dataflow pipeline - #37

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deflaux merged 2 commits into
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variant-annotation
Mar 19, 2015
Merged

Implement sample variant annotation dataflow pipeline#37
deflaux merged 2 commits into
masterfrom
variant-annotation

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@calbach

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See various caveats and disclaimers in comments: this is a limited sample application.

One thing which may need revision is the output; right now it's really only human readable (at best). Open to suggestions on a better output format.

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@deflaux let me know if you'd prefer I fork into my own options at this point. Not sure how much we want to jam into this object.

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I think this is fine place for it for now.

@calbach
calbachforce-pushed the variant-annotation branch from 4dded6d to 6798954CompareMarch 6, 2015 17:10

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To make sure I'm understanding this correctly, are these assumptions true?

  • By default, this pipeline will yield an output record for every alternate allele in 1,000 Genomes within BRCA1 that is a SNP and has an effect other than synonymous.
  • For 1,000 genomes, restricting to sample HG00261 has no bearing on the output of this pipeline since all samples have calls for all variants (and we are also not retrieving/looking at the genotype within the call).
  • If we change the job parameters to run on Platinum Genomes and a callSetId within it, we will only annotate the variants that the specified callSetId has.

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That's correct. People typical run a variant annotation program on a single VCF, so I think the behavior is reasonably well aligned with a user's expectations.

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CH, is right but you still want to keep track of what you're annotating since metadata is still important if you combine datasets or are comparing them. If you can cache them that will save you time later on.

@deflaux

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This looks good to me - merge it at your convenience.

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Is this necessary? Why not convert the list of Contigs to a PCollection directly?

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Done

@coveralls

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Coverage Status

Coverage increased (+0.78%) to 24.63% when pulling 64aa02f on variant-annotation into efd9219 on master.

@calbach
calbachforce-pushed the variant-annotation branch from 64aa02f to 6b46e28CompareMarch 19, 2015 20:47
@calbach

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Rebased, made some performance changes, and added some timing information. The end result is that it will currently work well on small regions, but performs quite poorly on whole variant-sets, on account of SearchVariants throughput. This should improve over time.

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Coverage Status

Coverage increased (+0.61%) to 24.46% when pulling 6b46e28 on variant-annotation into efd9219 on master.

deflaux added a commit that referenced this pull request Mar 19, 2015
Implement sample variant annotation dataflow pipeline
@deflaux
deflaux merged commit 1efa5db into masterMar 19, 2015
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Nice sample CH!

@deflaux
deflaux deleted the variant-annotation branch March 30, 2015 20:47
jiridanek pushed a commit to jiridanek/dataflow-java that referenced this pull request Jan 18, 2016
…tation
Implement sample variant annotation dataflow pipeline
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5 participants

@calbach@deflaux@coveralls@garrickevans@pgrosu