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feat: add benchmarking for fine-mapping using Alzheimer as example #572

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merged 3 commits into from
Apr 10, 2024

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addramir
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@addramir addramir commented Apr 9, 2024

✨ Context

This PR presents an example of fine-mapping of the GWAS catalog study for Alzheimer's disease (link to study). The study itself is a good benchmarking example for fine-mapping - relatively large number of SNPs, very strong signal on the 19th chromosome (APOE). It's worth noting that usually very strong signals are excluded from fine-mapping due to instability.

🛠 What does this PR implement

Summary:

  • 10607272 SNPs in GWAS
  • 33 clumps (32 without MHC)
  • Fine-maping of all 32 clumps (without MHC) on my local machine using one cpu and a 2Mb window: 95 min (~3 min per locus). This run was performed without carma and sumstat imputation.
  • The average number of overlapping SNPs between GWAS and LD was 6653.3125 SNPs.
  • The complete fine mapping run of the APOE locus using carma and sumstat imputation took 19 minutes. It detected 152 outliers and imputed 715 SNPs.
  • MHC fine-mapping run on 1MB took 9.5 min with 13188 SNPs in overlap.

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@addramir addramir marked this pull request as ready for review April 9, 2024 12:04
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addramir commented Apr 9, 2024

@Daniel-Considine Please have a look at this notebook. I run the fine mapping loop (no paralisation) on Alzheimer's disease and it seems to be a good toy example to benchmark your paralisation. Try running clumping and FM of your paralisation function on it (and I advise you to remove the MHC locus, see the notebook for details).

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@Daniel-Considine Please have a look at this notebook. I run the fine mapping loop (no paralisation) on Alzheimer's disease and it seems to be a good toy example to benchmark your paralisation. Try running clumping and FM of your paralisation function on it (and I advise you to remove the MHC locus, see the notebook for details).

Thanks Yakov, will take a look

@Daniel-Considine Daniel-Considine merged commit a5b62f2 into dev Apr 10, 2024
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@Daniel-Considine Daniel-Considine deleted the yt5_fm_benchmark branch April 10, 2024 13:03
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