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Funcotator - Adding cDNA Strings for Intronic Variants #5321
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jonn-smith
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LeeTL1220
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@jonn-smith Minor stuff. Feel free to merge once it is addressed.
src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorUtils.java
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src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorUtils.java
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LeeTL1220
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Oct 25, 2018
@jonn-smith Make sure to check that travis errors are transient. |
Now intronic variants produce a cDNA string. This string is created in a similar way to how the Codon Change String is created for intronic variants: If the transcript containing the variant has no exons, the cDNA string will be empty. If the transcript in which the variant occurs contains at least 1 exon, the string will be non-empty and of the form: c.e[EXON NUMBER][+|-][BASES FROM EXON][REF ALLELE]>[ALT ALLELE] Concretely: c.e2-1A>G Where: 2 = the number of the exon to which the given variant start is closest -1 = number of bases away from the exon (1 before) A = Reference allele G = Alternate allele Fixes #5187
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Codecov Report
@@ Coverage Diff @@
## master #5321 +/- ##
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Coverage ? 86.906%
Complexity ? 30311
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Files ? 1849
Lines ? 140500
Branches ? 15475
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Hits ? 122103
Misses ? 12788
Partials ? 5609
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EdwardDixon
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Nov 9, 2018
…e#5321) Added in cDNA strings for intronic variants. Now intronic variants produce a cDNA string. This string is created in a similar way to how the Codon Change String is created for intronic variants: If the transcript containing the variant has no exons, the cDNA string will be empty. If the transcript in which the variant occurs contains at least 1 exon, the string will be non-empty and of the form: c.e[EXON NUMBER][+|-][BASES FROM EXON][REF ALLELE]>[ALT ALLELE] Concretely: c.e2-1A>G Where: 2 = the number of the exon to which the given variant start is closest -1 = number of bases away from the exon (1 before) A = Reference allele G = Alternate allele Fixes broadinstitute#5187
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