Review of the Quality Control Checks Performed by Current Genome-Wide and Targeted-Genome Association Studies on ME/CFS, 2020, Sepulveda et al

Kalliope

Senior Member (Voting Rights)
Provisionally accepted opinion article in frontiers in Pediatrics - Paediatric Neurology

Review of the Quality Control Checks Performed by Current Genome-Wide and Targeted-Genome Association Studies on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

by Nuno Sepulveda, Anna D. Grabowski, Eliana M. Lacerda and Luis C. Nacul

In summary, given the partial QC checks performed in current GWAS and TGAS, the question of a genetic component in ME/CFS remains open for investigation. To accelerate the discovery of promising disease-gene association, future genetic studies of ME/CFS should set data and methodological standards as high as those followed by the 1000 Human Genome Project and the UK10K project (19,20). Data sharing should also be a general practice to provide the researcher community the opportunity to perform additional checks or alternative analyses of the same data.

 
Unfortunately the list of referenced papers isn't available yet, the citation numbers don't link to anything.
Perez et al is most likely the awful INIM/Klimas team 23andMe study where no quality control was done.
https://www.frontiersin.org/articles/10.3389/fped.2019.00206/full

The new paper has this quote. I don't remember a limit on MAF of 0.1, but perhaps I'm thinking of the supplemental table they provided.
On the one hand, the study of Perez et al (8) only performed the QC check based on the MAF. This study also used a non-standard criterium for selecting SNPs: those with MAF<0.10 in either patients or reported in the Kaviar database were excluded from the analysis.

I seem to remember the UK Biobank site (not ME Biobank) had some great discussion on quality control procedures.....

EDIT : Link to thread on Klimas study
https://www.s4me.info/threads/genet...study-2019-perez-nathanson-klimas-et-al.9415/
 
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