PharmGKB / PharmCAT

The Pharmacogenomic Clinical Annotation Tool
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AD Format #168

Closed JCBNim closed 9 months ago

JCBNim commented 9 months ago
Capture d’écran 2024-01-12 à 11 30 28
whaleyr commented 9 months ago

Can you please describe what you're either asking or requesting?

JCBNim commented 9 months ago

Hello, I want to know if the "AD" format requires an integer or if a number with decimals is possible. The Pharmcat software tells me the following message with the numbers detailed in the screenshot: "VCF Unexpected AD format number: '2'. Treating number as '.' and ignoring AD field.

The attached file is a screenshot of part of my VCF generated by "Sophiagenetics DDM" where you can see the AD format

markwoon commented 9 months ago

I want to know if the "AD" format requires an integer or if a number with decimals is possible.

I'm going to answer your question with another question: do you understand what the AD field represents? If not, refer to the "AD and DP" section here: https://gatk.broadinstitute.org/hc/en-us/articles/360035531692-VCF-Variant-Call-Format

TL;DR - Since it represents the # of reads, it must be an integer.

The Pharmcat software tells me the following message with the numbers detailed in the screenshot: "VCF Unexpected AD format number: '2'. Treating number as '.' and ignoring AD field.

This error is not talking about the VALUE you have, it refers to the INFO header for the AD field.

I will improve the error message to: INFO header for AD has unexpected number (2). Expecting 'R'. Treating number as '.' and ignoring AD field.

See section 1.2.2 in the VCF spec for details.

TL;DR - You should have an AD value for each possible allele, which is represented by "R".