Code Monkey home page Code Monkey logo

Comments (2)

mykmal avatar mykmal commented on September 13, 2024 1

Thank you for fixing this bug so quickly! The updated version now works correctly on my example GWAS file.

As for rearranging the QC checks, I can see why doing so would be more complicated than I initially imagined. I'll let you know if I run into any other GWAS formats that break get_genome_build().

from mungesumstats.

Al-Murphy avatar Al-Murphy commented on September 13, 2024

Hey! Thanks for the detailed report. Some things to note:

Moreover, I think that get_genome_build() should fail if no matches are found, rather than defaulting to GRCh38 (which is the current behavior).
I agree, I have added this fix - if no match is found in either genome build MSS will now fail.

incorrectly concludes the reference genome for a GWAS summary statistics file that has chromosome numbers coded with the "chr" prefix
I have added a check for this in the check genome build function so it should work as expected now but let me know if it doesn't?

Instead, I suggest rearranging the QC steps in format_sumstats() to put all QC steps that don't rely on the GWAS assembly before the call to get_genome_build()
I had a look through all our 60+ checks and the vast majority require a genome reference. Moreover, these checks are interdependent so even if a check itself doesn't require a genome reference, a check it relies on might. This gets quite complicated so I have avoided moving any checks for SNP, CHR and BP to above the inference of genome build for now. However, do let me know if you come across any other examples other than the 'CHR' prefix which causes an issue with inferring the genome build and I'll be happy to update.

These changes have been added to MSS v1.9.9. You can install this from Github now or wait a few days for it to go up on the devel version of Bioconductor. Let me know if your issue persists (feel free to reopen this issue if so).

Cheers,
Alan.

from mungesumstats.

Related Issues (20)

Recommend Projects

  • React photo React

    A declarative, efficient, and flexible JavaScript library for building user interfaces.

  • Vue.js photo Vue.js

    🖖 Vue.js is a progressive, incrementally-adoptable JavaScript framework for building UI on the web.

  • Typescript photo Typescript

    TypeScript is a superset of JavaScript that compiles to clean JavaScript output.

  • TensorFlow photo TensorFlow

    An Open Source Machine Learning Framework for Everyone

  • Django photo Django

    The Web framework for perfectionists with deadlines.

  • D3 photo D3

    Bring data to life with SVG, Canvas and HTML. 📊📈🎉

Recommend Topics

  • javascript

    JavaScript (JS) is a lightweight interpreted programming language with first-class functions.

  • web

    Some thing interesting about web. New door for the world.

  • server

    A server is a program made to process requests and deliver data to clients.

  • Machine learning

    Machine learning is a way of modeling and interpreting data that allows a piece of software to respond intelligently.

  • Game

    Some thing interesting about game, make everyone happy.

Recommend Org

  • Facebook photo Facebook

    We are working to build community through open source technology. NB: members must have two-factor auth.

  • Microsoft photo Microsoft

    Open source projects and samples from Microsoft.

  • Google photo Google

    Google ❤️ Open Source for everyone.

  • D3 photo D3

    Data-Driven Documents codes.