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Adding annotations to Associations from ClinVar #28

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adgirish opened this issue Mar 8, 2017 · 2 comments
Open
3 tasks

Adding annotations to Associations from ClinVar #28

adgirish opened this issue Mar 8, 2017 · 2 comments

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@adgirish
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adgirish commented Mar 8, 2017

Given an RDD of Association objects, trying to add annotations from the ClinVar database providing biological context for these variations.

Annotations will include information about how variant manifests in patients, surrounding genome info, et cetera.

See this Google Doc for more information

To Do

  • Translate XML to Parquet > HDFS
  • Generate actual rsID test data
  • Finalize annotation fields and build class
@fnothaft
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fnothaft commented Mar 8, 2017

CC @heuermh most of the functionality for pulling in these annotations should already exist in ADAM's variant annotation codepath.

@heuermh
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heuermh commented Mar 8, 2017

Right, all the ClinVar annotations in a VCF file will end up in the VariantAnnotation.attributes map.

adgirish pushed a commit to adgirish/gnocchi that referenced this issue Oct 24, 2017
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