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Feature request. Accept a VCF line #11

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Peter-J-Freeman opened this issue May 10, 2024 · 3 comments
Open

Feature request. Accept a VCF line #11

Peter-J-Freeman opened this issue May 10, 2024 · 3 comments

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@Peter-J-Freeman
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A user stated

"I presumed that VariantValidator can accept a row of data from a VCF file as input, but that returned an error on the website."

It would be good if we could accepr a VCF line. This would be a really nice alternative to the vcf2hgvs tool. Could be added to the interactive site and the REST APIs

@leicray
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leicray commented May 10, 2024

We already support inputs in the format 17-50198002-C-A which is nominally "gnomAD" format. The vcf2gnomad script that I wrote performs the necessary transformation and that could be adapted for this task.

@Peter-J-Freeman
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Good point. That script could be added internally

@leicray
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leicray commented May 10, 2024

There is just one wrinkle that would have to be considered. I have seen numerous occasions on which users have submitted invalid VCF files. We would probably have to include a format check on submitted VCF files before having them processed by the vcf2gnomad script.

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