Search results

Looks like there were some remaining bugs which explains some of what I was seeing. And there are probably still more! Anyway, I’ve not tested everything (particularly running from scratch without cached data or the options to replace hardcoded values I was using) and it’s a blag of borrowed...

I need to catch up with this thread but looks like an interesting discussion. I’ve been throwing some ideas around and playing with some approaches to look at lots of SNPs at once. I got loads of data to start so have been trying to be a bit smarter and narrow things down. Not sure what it all...

Agree. And it’s one of the things that those involved in the MEA’s health and social care team have tried to use to explain or justify their approach when questioned on it. Utterly misguided.

Interesting reading the peer review letters and understanding changes made too. Agree with @Simon M and it’s great to see this published. Congratulations to Audrey, @chillier all involved. Thanks also to AfME for funding it!

I’ve put together a web app and a printable template so people can give this idea a go if they want. Hopefully it will allow people to experiment with the idea here and see what works in principle. If the idea is useful then hopefully others who are better able can take this on and develop it...

Yeah, that was what I was starting to think with my comments yesterday and it seemed implied by comments on the roundtable discussion. Although I’ve got a lot more to read/listen to and hadn’t got things to work to be sure. Nice work there, thanks for sharing your code snippets and findings (and...

That’s my understanding. All the groups of variants and all the different scorers (not just RNA_SEQ) and different tissues… Then visualise and interpret it and… there’s a lot of work I think!

From what I can tell - Focus is on scoring and visualising a single variant, you can do batches of variants though - Apparently it currently predicts many many scores per variant, so there’s a lot of data to go through and interpret - It looks like the team are hoping to support large scale...

Well that’s incredibly disappointing. Thrown under the bus again. I guess we should wait for official word on what this is rather than interpret too much. But equally plan on what to do next and what to focus on that we may still be able to influence.

I fed the API documentation and details of the structure of the DecodeME summary statistics files to Gemini to get an idea of what may be needed, outline follows for those interested, treat with caution, etc etc. The first steps should be familiar from our experiments last year.

The API uses hg38 which is what DecodeME summary stats use so we don’t even need to do liftover There’s a video tutorial here, lots more reading to do but definitely looks like something someone should give a go! And a roundtable from the team

Will definitely be interesting to see how this is used. Deepmind and Isomorphic are doing really interesting things I think and great that this has now been released after being talked about last year.There’s an API available too with keys available for free for non commercial use...

Agree. There’s no excuses. Hospitals and their staff have repeatedly failed people. We’ve had enquiries. If the medics won’t act voluntarily (they haven’t) they should be compelled to by government. If there were more public attention and acceptance of the condition there would be an outcry and...

How can this move the field forward when there is (1) no new evidence, it’s a review and (2) no new ideas, just claims of things like neuroinflammation and t-cell exhaustion we’ve heard before.. Repeating something does not move a field forward. New evidence and new ideas do.

Apparently they got 5113 responses

Thanks @Adam pwme Here’s the YouTube link (for those not on twitter, I also had problems with the piped.video site not loading so not sure if others will too) If people don’t like YouTube just go to BBC Sounds and skip forwards to 2h 23m in to this programme...

I’m still drawn to the idea of the problem being one of receptors either responding more than they usually would, being extra sensitive or perhaps of them amplifying all or certain signals (thinking of the biological equivalent of an electronic transistor or perhaps differential amplifier). It...

That nobody can tell, tells us a lot. It shouldn’t be a topic that is unclear. Thanks for the updates though and well put @Trish I don’t know of any other such severe condition treated with such wilful disdain (there obviously has been in the past but we seem to be the main one now).

In the past I’ve equated the situation we face with the NHS to being like telling someone with a broken leg to run to the hospital to get treatment. But I think I’ll adopt this sentence, It encapsulates the impact of activity and PEM so well.

Came across this recently. Not sure if any of the points are applicable (although this one could be) but it looks like a useful resource https://www.cqc.org.uk/guidance-providers/gps/gp-mythbusters/gp-mythbusters-full-list-tips-mythbusters