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Feature/35183/oxford handler#56

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lauramccluskey1 merged 23 commits into
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feature/35183/Oxford_handler
Jan 31, 2024
Merged

Feature/35183/oxford handler#56
lauramccluskey1 merged 23 commits into
developfrom
feature/35183/Oxford_handler

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@lauramccluskey1

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Details on this change can be found on ticket 35183 and include:

  • Extra genes added
  • Updates to testscope regular expressions
  • Updates to codingdnasequencechange regular expressions
  • Functionality to split the files into brca and colorectal

Variant counts have been checked as part of QA process.

Comment thread lib/import/brca/providers/oxford/oxford_handler.rb Outdated
Comment thread lib/import/brca/providers/oxford/oxford_handler.rb Outdated
Comment thread lib/import/colorectal/providers/oxford/oxford_handler_colorectal.rb
@shilpigoeldev shilpigoeldev self-requested a review January 30, 2024 09:20
def convert_nil_to_zero(count)
count = 0 if count.nil?
count
end

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This method is not needed.

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See commit 79a0998

geneticscope = record.raw_fields['scope / limitations of test']
geneticscope.scan(/panel|scree(n|m)|brca|hcs|panel/i).size.positive?
geneticscope.scan(/panel|full\s?screen|full\sscreem|full\sgene\sscreen|
brca_multiplicom|hcs|brca1|brca2|CNV.*only|CNV.*analysis|

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Can it be moved to constants please, similarly targeted check too?

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See commit 79a0998

Comment thread lib/import/brca/providers/oxford/oxford_handler.rb Outdated
\s?(?<variant>del|inv|dup)/ix
EXON_REGEX = /(?<mutationtype>del|inv|dup).+ion\s(?:of\s)?exons?\s?(?<exons>[0-9]+(?:-[0-9]+)?)|
ex(?:on|ons)?\s?(?<exons>[0-9]+(?:(?:-|\+)[0-9]+)?)\s?(?<mutationtype>del|inv|dup)|
(?<mutationtype>del|inv|dup).+ion\sBRCA1\sexons?\s(?<exons>[0-9]+-(?:[0-9]*))|

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Can it be made more generic ex- [a-z ]+ rather BRCA1 to be able to extract mutation and exonic location irrespective of what comes ex- BRCA2 rather BRCA1?

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See commit a76e454 and 9c4ffb7

@lauramccluskey1

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@shilpigoeldev- the variant counts are the same after the changes for both brca and colorectal

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Thanks @lauramccluskey1 ..looks good to me.. Happy to approve if the counts are matching and QAed by Fiona.

@lauramccluskey1 lauramccluskey1 merged commit bab6c9c into develop Jan 31, 2024
@lauramccluskey1 lauramccluskey1 deleted the feature/35183/Oxford_handler branch January 31, 2024 13:28
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3 participants