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This is not purely biological question but how do the companies making DNA analysis know what your DNA means? Is there some database describing human DNA?

I watched some documents about DNA, gene editing... and people in the documents were often working with some infographical like documents which described some chromosome or desease (I don't know what exactly that was, I am an amateur trying to make sense of it) but I was not able to find anything as they had on the internet.

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  • $\begingroup$ They don't know what your "DNA means", but there's data about the function of particular genes and the effect of some mutations in these genes. "Describing human DNA" is hard to interpret, I think; the full sequence of human genome has been sequenced since 2003, but the "meaning", the full implications of the sequences is still a matter of research. The Human Proteome Project is one initiative headed in this direction of study. $\endgroup$ – Gabriel Nov 17 at 16:31
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It might be useful to look at how 23andme works, to see how this analysis product is generated, in general:

The 23andMe genotyping platform detects single nucleotide polymorphisms (SNPs). A SNP is a DNA location, or "marker," in the genome that has been shown to vary among people in terms of the DNA base or bases. There are four DNA bases: adenine (A), thymine (T), guanine (G), and cytosine (C). So, for example, at the same genomic location, you might have a C and someone else might have a T. These DNA base differences are known as "variants."

These SNPs can differ by population types. Some subsets of a population type might suffer a disease and appear to have SNPs that others do not. So-called GWAS studies (discussed below) work at associating SNP distributions with diseases or other phenotypic traits.

You send some spit to 23andme, they tell you who you are likely related to and what diseases or other physical attributes you may have, based on patterns of these SNPs.

23andme uses Illumina chips for figuring out what genotypic variants you have in the spit sample you send to them. Illumina is a company that manufactures "chips" that react to the presence or absence of markers in the DNA sample you send to 23andme. Each chip in this platform calls different sets of markers.

These markers often have identifiers associated with them, each called an rsID.

The rsID number is a unique label ("rs" followed by a number) used by researchers and databases to identify a specific SNP (Single Nucleotide Polymorphism). It stands for Reference SNP cluster ID and is the naming convention used for most SNPs.

They also map variants that do not use rsIDs, and instead use some other internal identifier.

Whatever the identifier, GWAS — Genome-Wide Association Studies — are research projects that analyze populations of people in different ethnicities or other cohorts, looking for over- or under-presence of various markers, compared with the larger human population.

For instance, here is such a GWAS study that is used by 23andme to indicate risk factors for Parkinson's disease, in sample donors who have these variants. There are other such studies for schizophrenia, for autoimmune diseases, and so on.

The power of these studies to make a positive, correct association depends on various factors, but the product 23andme sells is ultimately a packaged summary of a lot of work by researchers around the world.

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  • $\begingroup$ Great read and links, thank you. :) $\endgroup$ – eXPRESS Nov 18 at 20:11
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This question is both easy and hard to answer: DNA and its (known) functions have been described in scientific literature, textbooks and databases for the last few decades, but because this is a enormous amount of data there is no single source or collection that could comprehensively catalog all this information.

Information on genomes and genes has been collected into (somewhat) standardised databases hosted by NCBI or ENSEMBL, however those will probably not be helpful to anyone without established background knowledge. Indepth information about specific genes, procedures or diseases is usually just linked in these databases and comes from actual research papers.

If you want to understand more about DNA genetics and so on the best approach is to start with the basics and take a look at a textbook or online course, if you then have specific questions you can still come back here and ask those.

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  • $\begingroup$ Thanks, I glanced over NCBI before and as you say, I was quite lost. ENSEMBL looks more useful to me. I wish some compilation of all those research data will eventually be created, it would be incredible to have possibility as an ordinary person to see what part of DNA (at least from the known parts) is responsible for which manifestation of human body. Anyway definitely gonna dive deep on this one. :D $\endgroup$ – eXPRESS Nov 18 at 20:19

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