Skip to content

Conversation

@shilpigoeldev
Copy link
Contributor

What?

Few of the exonic variants were not being captured correctly via Newcastle BRCA importer. This will resolve https://nhsd-jira.digital.nhs.uk/browse/NDRS2-2551

Why?

Regex was picking the second location of variant and not the whole range.

How?

Have updated the regex so that it can capture the range for such cases.

Testing?

Have updated the tests as well.

Anything Else ?

None

@shilpigoeldev shilpigoeldev self-assigned this Feb 5, 2025
ex(on)?s?\s?(?<exons>[0-9ACGT]+((to|and|-|\s)+[0-9ACGT]+)?)\s?(?<variant>del|dup|ins)?|
(?<exons>x(on)?s?\s?[0-9ACGT]+(to|and|-|\s)?x(on)?s?[0-9ACGT]+)(?<variant>del|dup|ins)|
x(?<exons>[0-9+-? ACGT]+)+(?<variant>del|dup|ins)|
^(?<variant>del|dup|ins)\s?(?<exons>[0-9]+((to|and|-|\s)+[0-9ACGT]+)?)
Copy link
Collaborator

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Looks fine to me, i'm just wondering whether it is worth expanding to account for the potential of there being a ' ' before the del/dup when it is in the x1-x2.. / ex1-ex2... format? Currently it would only match the full variant(both if e.g. 'x14-x20del' rather than "x14-x20 del"?

Copy link
Contributor Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Thanks @NImeson , have adjusted the regex to handle if there is space or no space. Added test too to show its working. All under commit [6f01e8c]

Copy link
Collaborator

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Great, all looks good to me then :)

@shilpigoeldev shilpigoeldev requested a review from NImeson February 5, 2025 12:40
@shilpigoeldev shilpigoeldev merged commit 02a796f into develop Feb 5, 2025
7 of 13 checks passed
@shilpigoeldev shilpigoeldev deleted the feature/newcastle_exonic_bug_2551 branch February 5, 2025 12:54
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

2 participants