We are all mutants
That’s right. Each of us has some mutations, technically known as genetic variants, and we have quite a few of them. The most common and abundant are single nucleotide polymorphisms (SNPs), but the genome is also full of small insertions, deletions, duplications, inversions…If we consider the around thousand analyzed individuals as a statistically significant sample, then a statistical Pole has around 3,715,552 SNPs, 16,473 singletons and 768,905 InDels (i.e. insertions-deletions) in their genome. Singletons have turned out to be the most intriguing. These are variants unique to one person - that is, no two individuals’ genomes within the database will have the same singleton. Each of us is unique!
As long as the change does not disturb the correct sequence of the gene, the correct protein is produced, so all is well. Sometimes it happens that the change also occurs in the coding region of the gene, but it is still harmless - it does not cause major abnormalities in our bodies’ functioning. This is obviously a big simplification, because genetics is extremely complicated and operates on probabilities. Black and white situations are rare.
What can we see in this beautiful colourful diagram above? It is the percentage share of individual variants in a given range of allele frequencies (supposing that the allele is a variant of a given gene). The X axis shows the allele frequency ranges from 0 to 100%, while the Y axis presents the percentage share of the variant with a given consequence in the entire sample group. This allows us to determine which variants are proportionally more common in a given frequency range. For example, we can clearly see that among the rarer alleles (0-0.1%), potentially deleterious mutations such as frame shift and mutation in the start / stop codon are more common.
The Thousand PolishGenomes Project - a national database of Polish variant allele frequencies" is a unique scientific project, the aim of which was to create the first database of genetic variants of Poles and Polish women. The presented results come from this project.
Find out more about types of mutations and their consequences:
P.S. Of course, there exists data that is less extensive than WGS analyzes from other populations, but with a much larger sample size, for example in 23andMe or FTDNA collections. In this project, however, we focused only on data from genome-wide projects. Remember that the The Thousand PolishGenomes project is open to more discoveries by other research groups in the upcoming groups, and the presented results are only the tip of the iceberg.