James

@Chris I see. I think active user retention seems to be an issue. I am still in the top 25 users somehow!

Just to put this question in the context of how difficult it is to get ones head around, I scheduled a call with reps at Oxford Nanopore to get their take on this! It is not somehting that is just readily available in a text book. I've got some more meetings set up to get to the bottom of this and will try to do a self Q&A if nothing else comes up! The answer there already kind of hits the nail on the head as far as I can tell.

@NewStudent The haploid cells have the same chromosomes types (by which I mean 1-22 and a sex chromosome), but only one copy of each. Other cells have 2 copies of each chromosome type for a total of 46 per cell. In meiosis, only one copy of each type goes to each daughter cell for a total of 23 chromosomes per daughter cell.

So although the alleles may be varied, the first 22 chromosomes will contain the same genes. The X chromosome has some 600 more genes than the Y chromosome.

The chromosomes are named in descending order of size (i.e 1 is the biggest, 22 is the smallest), except the se…

@hisairnessag3 @Jan In reference to https://biology.stackexchange.com/a/87770/3553

The long drawn out discussion in the comments shows why people want to close the question on an opinion basis. Discussing opinions and speculations here is much better than in the answer. Here's my opinion on the matter.

I think Tarrare had some metabolic disorder. We cannot say what caused that for sure, but why not the most common; hyperthyroidism. I think as a result, and as a man in poverty, he ate very poorly which put a constant strain on his digestive tract and exacerbated any issue with his adsorpti…

Of course, if there is a variant, we need to know its position in all/any isoforms it may appear in. The problem is an issue with, as always, mapping...

Let's say a gene is 30 nucleotides with an isoform of 15 nucleotides starting halfway through. The 30 nucleotide one is better annotated in terms of expression levels so that is canonical. However, the 5AA isoform has 10 structures!!! So, naturally, the protein folks pick that as the canonical.

We have a variant at the 2nd nucleotide. Without explicitly checking, we risk attributing our variant to the canonical protein isoform, even thoug…

Hyperthyroidism can manifest in many ways. I prefer that he had this one condition manifesting in a peculiar way alongside malnutrition and infection rather than a combination of rare genetic conditions.

Your idea of Ehlers-Danlos fits so nicely with the accounts of his skin sagging though.

In the hyperthyroid case, one would have to describe that as skin sagging caused by overeating and not enough nutrition to recover. This presumes the doctors were over-egging how sagging his skin was perhaps?

@hisairnessag3 @Jan In reference to https://biology.stackexchange.com/a/87770/3553

The long drawn out discussion in the comments shows why people want to close the question on an opinion basis. Discussing opinions and speculations here is much better than in the answer. Here's my opinion on the matter.

I think Tarrare had some metabolic disorder. We cannot say what caused that for sure, but why not the most common; hyperthyroidism. I think as a result, and as a man in poverty, he ate very poorly which put a constant strain on his digestive tract and exacerbated any issue with his adsorpti…