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Recognize an individual genome from the rest. Part 1

Today we are going to describe and identify an individual genome analysed from a biological sample of interest.
The analysis of the genome, my own genome, the genome of my family… and today we are going to talk on the genome and forensics meaning to which extent my genome may be related to the general population and to which extent is it possible today to isolate the information of my genome, my individual genome from the rest.
So, we have seen in other chapters that we can use the information of my genome for several things, mainly to recognize where there are variables that predispose to disease, to drug response, to human traits… Today we are going just to describe and recognize an individual genome –my genome found in some place that we are interested in recognizing that that sample of that individual there corresponds to me. The idea then is that we’ll go into the personal identification. For the personal identification we have to analyse in the genome places in which we know that are unique for a given person and this is feasible, and this is very clear and robust because we cannot make mistakes on that.
This is what is called many times DNA fingerprinting and this fingerprinting has changed through time and in general, as we are going to see, we are going to focus mainly on what is called microsatellites. But first, let’s see to which extent the variants in the genome are shared or not among populations. The idea is that rare variants are interesting even though they may be specific for some populations.
For many years we have had the idea of the genome variation in the following terms: it was very clearly established that most of the genome variation is found within populations (85%) and only a fraction for populations within continents and a fraction around 10% between continents. The point is that we generally say that if a set of individuals are the only surviving people of the humanity, they have most of the genetic information. And this is true, but this is true only for the common variants, because in humans we have also rare variants and the rare variants are not shared among populations.
So, we can see that the rare variants are specific for Africans, specific for Europeans and only a small fraction are being shared among them. If you want to establish then the forensic analysis, we have to look for genetic variants that are common and very variable among individuals but not very variable among populations and this is what has been worked with what we called microsatellites or STR (Single Tandem Repeats).

Today we are going to describe and identify an individual genome analysed from a biological sample of interest.

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Why Biology Matters: The Genome and You

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