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Funcotator - Adding cDNA Strings for Intronic Variants #5321

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Merged
merged 2 commits into from
Oct 25, 2018

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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 #5187

@jonn-smith jonn-smith added this to the Engine-Q42018 milestone Oct 17, 2018
@jonn-smith jonn-smith requested a review from LeeTL1220 October 17, 2018 21:45
@jonn-smith jonn-smith force-pushed the jts_intronic_splice_sites_cDNA branch 3 times, most recently from 8334e06 to d3f5a0f Compare October 24, 2018 20:18
@jonn-smith jonn-smith changed the title DO NOT MERGE BEFORE #4344! Funcotator - Adding cDNA Strings for Intronic Variants Funcotator - Adding cDNA Strings for Intronic Variants Oct 24, 2018
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@jonn-smith Minor stuff. Feel free to merge once it is addressed.

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@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
@jonn-smith jonn-smith force-pushed the jts_intronic_splice_sites_cDNA branch from 9bb524a to 7d30e62 Compare October 25, 2018 00:47
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Codecov Report

❗ No coverage uploaded for pull request base (master@8c696a4). Click here to learn what that means.
The diff coverage is 98.765%.

@@            Coverage Diff             @@
##             master     #5321   +/-   ##
==========================================
  Coverage          ?   86.906%           
  Complexity        ?     30311           
==========================================
  Files             ?      1849           
  Lines             ?    140500           
  Branches          ?     15475           
==========================================
  Hits              ?    122103           
  Misses            ?     12788           
  Partials          ?      5609
Impacted Files Coverage Δ Complexity Δ
...er/tools/funcotator/FuncotatorIntegrationTest.java 85.968% <0%> (ø) 111 <0> (?)
...Sources/gencode/DataProviderForPik3caTestData.java 98.684% <100%> (ø) 3 <0> (?)
...dataSources/gencode/GencodeFuncotationFactory.java 86.294% <100%> (ø) 187 <0> (?)
...Sources/gencode/DataProviderForMuc16IndelData.java 94.444% <100%> (ø) 1 <0> (?)
...e/hellbender/tools/funcotator/FuncotatorUtils.java 87.812% <100%> (ø) 191 <8> (?)
...nder/tools/funcotator/FuncotatorUtilsUnitTest.java 92.62% <100%> (ø) 85 <7> (?)
...urces/gencode/DataProviderForMuc16MnpFullData.java 99.952% <100%> (ø) 6 <0> (?)

@jonn-smith jonn-smith merged commit 52eb07f into master Oct 25, 2018
@jonn-smith jonn-smith deleted the jts_intronic_splice_sites_cDNA branch October 25, 2018 01:46
EdwardDixon pushed a commit to EdwardDixon/gatk that referenced this pull request 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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3 participants