janeway

I do clinical genomics. Highly recommend you to find a university hospital that can do genomic analysis for you. The IUIS IEI list has ~500 known genes that could be causal if you have some variant in one of these genes. The key is a good bioinformatic interpretation and clinical follow up.

There are even some good commercial options that might be able to detect a causal variant. These guys can do it after order via healthcare professional https://blueprintgenetics.com/patients/?group=ordering-patie...

or these guys can do it from home; first the genome sequencing and then the immune panel report https://dantelabs.com/products/autoimmunity-panel

Likelihood of finding causal variants has doubled in last 5 years.

* IUIS page: https://iuis.org/committees/iei/

* latest version of gene list: https://static-content.springer.com/esm/art%3A10.1007%2Fs108...

* from this paper: https://link.springer.com/article/10.1007/s10875-022-01289-3

Great info also in IPOPI website https://ipopi.org/about-ipopi/mission-and-objectives/

IMO, the pdf version should contain the exact information that any other format might contain. Which version is the thesis and is everything contained. Anything else is just for your own interest.

But your approach sounds great. Good luck!

And Marx and Engles philosophy :D

Oh no. A major flaw that kills protects; to run a valid statistical test you need to understand the underlying reality of the data. Otherwise you just run tests until you find “something”.

How do you handle one genomic variant affecting dozens of different rna transcripts and isoforms? How do you handle tissue-specific expression? LD haplotype blocks? Frequency across populations and reference choice? Sample handling affecting read depth? Mixed direction of effects in phenotype-genotype? The critical (and beauty IMO) feature of bioinfo is requiring an understanding of how your dataset can rarely be considered clean and as simple as _observation name_ and _observation value_. To succeed it is usually critical to know a lot about the observation meta data which is not collected in the dataset. Hopefully in the future it will be better curated and less esoteric.

Lol, “I have a lot of debt, sexual exploitations, and access to sensitive information at work. How about you, brother?”.

My passport is from a “top” country. To get it I only needed a photo and my birth certificate, which I bought a copy of from a government office for a small fee. Then a signature from police department to say it is “my” certificate to accompany my photo.

When I was renewing it in a foreign country I filled out an application online and had it sent to my new foreign address without any checks. Perhaps the embassy checked on my residency but any ID in my new country has been issued based on that passport.

The image is placed in my website directory and then my static site generator, jekyll, uses a relative path tag to generate the path for the final compiled website on my machine. This static website is then uploaded to github. If I was uploading elsewhere, the workflow would be the same. Only the relative path is hardcoded and the domain therefore doesn’t matter. The true filepath is to some github link in my “_site” directory, but neither I nor the user see it. Static sites are very easy to manage in this way.

His new book on his UNIX history is really good.

We just called Janeway “the bible” for short.

Edit: I just realised what my username is here.

“Just following orders”

How much storage does your archivebox take up? Sounds good, but I have to be careful not to hoard data.