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MNVs - other variants considered as part of phased MNV annotation #624

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julie-sullivan wants to merge 2 commits into opencb:release-5.2.x from julie-sullivan:phased-transcripts

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julie-sullivan commented Nov 3, 2022 •

edited

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MNVs - other variants considered as part of phased MNV annotation


// variant additionalAttributes
"additionalAttributes": {
    "phasedTranscripts": {
        "attribute": {             
            "ENST0034245234": "1:343423:C:G,1:343423:CA:G",
            "ENST0034245236": "1:343423:C:G,1:343423:CA:G",   
            "ENST0034245237": "1:343423:C:G",
        }
    }
}

added phased transcripts + variants to additional attributes
added passing unit test
Some queries were missing the data release variable - I've added. Please double check!

Please see the PR for the changes in v4: #586

julie-sullivan added 2 commits

November 3, 2022 08:53


          add phased transcripts to additional properties for MNVs

36da8fc


          parse phase and genotype correctly. set data release for substitution…

f0588a6

… scores query

julie-sullivan requested a review from jtarraga

November 3, 2022 11:13

julie-sullivan self-assigned this

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