This guide is also made from me (or some of the me from a couple years back).
I haven't read the whole thing yet and it's probably clearly stated at some point (though one can deduce it with the beginning already) but the surprise for me was that this field is highly statistical. Before starting I had the (very) naive view that it was possible to read the genome as one reads a file and look at what's going on. But the sequencing technics (and accompanying algorithms) only allow to statistically read the genome. So variants/mutations found are only found with a given statistical certainty. If the sample wasn't well prepared for example it could be that this certainty is ultimately not high enough to do a proper analysis/diagnostic.
It's a fascinating field (try to watch a video on sequencing by expansion, to feel how sci-fi this field actually is) that is very hard to approach with only high-school biology level and this guide is really well done to sort of bridge this first gap.
Its like this was made for me haha ! I've been reading books about epigenomica to get an understanding. This is cool, will definitely spend my weekend going through it
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