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  1. Chris Ponting

    Stanford Community Symposium 2018: Phair, Metabolic traps, Tryptophan trap

    I'd need to read the methods describing the approach taken before I can come to a view. But I think what was being said was that a GWAS would *not* be able to reveal this result because each DNA variant is not statistically significant when considered alone. Rather, it was being proposed that...
  2. Chris Ponting

    Researchers propose deep trawl of DNA to help uncover the causes of ME/CFS (Simon McG blog)

    Yes, my main concern is meeting this target. One thing that I need to find out is what are the restrictions from recruiting from outside the UK. This will be defined by the ethics committee governing the study so we won't know for a while.
  3. Chris Ponting

    Researchers propose deep trawl of DNA to help uncover the causes of ME/CFS (Simon McG blog)

    Hi Robert. Yes, absolutely correct. Because the trigger (the pathogen) is not "written into" the DNA of individuals, we would not "see it". But what we can do is to detect what DNA letters predispose pwME to not recovering from these triggers. Knowing what the molecular/cellular deficit in...
  4. Chris Ponting

    Researchers propose deep trawl of DNA to help uncover the causes of ME/CFS (Simon McG blog)

    Sorry, I've been away on vacation and so have not been following these discussions. Simon FWIW I think you've done an excellent job of explaining the strengths and limitations of a GWAS. On this issue of GWAS versus WGS (whole genome sequencing): GWAS asks 'what DNA letters that are *common* in...
  5. Chris Ponting

    Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes (2019) Lakhani et al.

    I just wanted to highlight a paper that came out today in Nature Genetics: Lakhani et al. (“Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes”). In this study, they used very large health insurance claims data to compare whether...
  6. Chris Ponting

    Stanford Community Symposium 2018: Phair, Metabolic traps, Tryptophan trap

    Sorry for not explaining. I think the question is: "Is the DNA variation in IDO2 unusual?" To me here 'unusual' means compared to all 20,000 genes across the entire human genome. The UK Biobank weblink I provided shows that IDO2 DNA variation is *not* unusual. Scroll down in the linked website...
  7. Chris Ponting

    Stanford Community Symposium 2018: Phair, Metabolic traps, Tryptophan trap

    Interesting. There are 174 different missense and loss-of-function alleles for IDO2 listed in EXAC, so the multiple testing correction really should be for 174 different tests. Quite a large burden of testing. From UK Biobank there is no signal for (self-reported CFS/ME)...
  8. Chris Ponting

    UK CMRC 2018 Conference held September 19 & 20 at Bristol

    Thank you. Yes, absolutely, the opportunities to invest are not new. Evidence in person, in meetings and on paper has been presented and - yes - we await a decision on whether they will set up a new funding mechanism that would actively pump-prime biomedical research. This would need to go...
  9. Chris Ponting

    UK CMRC 2018 Conference held September 19 & 20 at Bristol

    I think only the videos are being posted this year. There was a low download rate of other materials from previous years. That's what I am told.
  10. Chris Ponting

    UK CMRC 2018 Conference held September 19 & 20 at Bristol

    My apologies - I had to run for a plane so had to make the closing remarks brief. What I could (should?) have said is that there is a narrow window of opportunity because of the confluence of new and exciting biomedical findings (some of which were shown during the CMRC Conference), the changing...
  11. Chris Ponting

    Significant association of DNA variants with self-reported ME/CFS (Chris Ponting blog)

    All good points. A single, non-replicated, GWAS finding is not sufficient - I agree. This is why my personal point of view is that a well-powered GWAS (with subsequent replications) is the first thing that is needed. Only then will causal hypotheses be generated, allowing findings to be "battle...
  12. Chris Ponting

    Significant association of DNA variants with self-reported ME/CFS (Chris Ponting blog)

    Thank you for your generous comments and offer. Most science grants are for hundreds of thousands, if not millions, of pounds. For this, the nation's taxes need to be invested, in my opinion, via the MRC and the NIHR, to this cause. The CMRC is asking this question of the MRC/NIHR. It's taking...
  13. Chris Ponting

    Significant association of DNA variants with self-reported ME/CFS (Chris Ponting blog)

    Thanks all, @Jonathan Edwards, for your comments. Yes, only a small and well-defined ME/CFS cohort (with a well-matched control cohort) would be required to replicate this observation. But this isn’t what is needed IMO: we need *many* such genes/genomic intervals. If, for example, we had 4...
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