What is genetic imputation?
Genetic imputation: definition
We understand genetic imputation as the technique consisting of estimate or infer genotypes for which we have no concrete information in a sample. This isn't done randomly, but rather, with the other existing data, a puzzle can be put together with all its pieces.
To put it simply, it involves assigning a value that we don't know for sure, but which, based on additional and related information, can be assigned with a very high probability. Ultimately, this saves steps, but it serves to complete the sample's information.
How genetic imputation works
To perform genetic imputation, a sample is taken reference population group , usually ethnic. In this way, a background price is available to make the comparatives with certain guarantees of success.
Although 100% accuracy cannot be guaranteed because there is no sequencing, thanks to the Big Data , yes you can get one very high degree of reliability . Thanks to the linkage disequilibrium , it is decipher DNA blocks and, knowing the alleles of a variant , can be inferring those of others , which happens among parents and their children or within a particular ethnic group. And when specific information is lacking, it can be extremely useful for drawing conclusions.
Of course, we must have three elements: a genetic sample from the interested party, genetic samples from a sufficiently large number of individuals from the same group, and software that can draw conclusions.
The benefits of this technique
The genetic imputation has numerous Benefits , which is why several genetic laboratories use it. It should be noted that this applies not only to individuals, but also to groups or public interest objectives. These are the main ones:
1. More genetic data available
This technique allows you to have more genetic data available because genotypes that do not exist are inferred. If you have part of the information with the sample, thanks to the imputation and comparison with other data You can access a much broader database. And this undoubtedly allows for improved research.
2. Faster detection
The Gene imputation accelerates detection processes . With data, for example, you can impute a gene and thus detect situations in much less time. Not surprisingly, you no longer have to genotype the genetic sample again. The time savings, in many cases, are essential for making a health decision.
3. The information is supplemented
Complementing the information is easier when it is done Genetic imputation . It works with a certain degree of randomness, yes, but this can help consolidate the different pieces and give them coherence. This, in the end, makes constructing a possible genetic map much easier.
4. With genetic imputation you can detect problems
This type of test It facilitates the detection of problems or potential genetic mutations . And, although this will initially be done on a macro level, this can later be further refined with a genetic panel, for example. This technique provides facilities for detecting potential diseases.
Of course, we must introduce a nuance: the better the quality of the reference sample, the greater the chances of accurate detection. So, from the point of view of predictive genetics , it's interesting.
5. It is easier to do macro studies
With the genetic imputations can be made, more easily, Macro studies of broad population groups . Not surprisingly, the lack of specific data is less relevant than in other cases. This goes far beyond individual cases, because it helps public institutions better plan their health policies. And, of course, it helps promote prevention and inform the population. Furthermore, this would be useful for any type of person, although it can be segmented according to interests.
Today, healthcare is not only a matter of public welfare, but also of proper resource management. It's no surprise that institutions might be interested in conducting this type of study.
6. Cheaper studies
Finally, it should be noted that, with this, the Genetic studies are much cheaper than if the gene had to be sequenced 100%. Since costs are saved, this makes the tests accessible to a greater number of people. Keep in mind that sequencing is expensive, but using the statistical background is much simpler and cheaper.
The practical consequence is that the Testing costs have been reduced exponentially. This is why it is one of the most widely used alternatives today.
Disadvantages of genetic imputation
Although it has more advantages than disadvantages, the genetic imputation may also have some negative elements . Above all, we point out these two:
1. Information with margin of error
The first drawback is that the imputation , in the end, provides information with a certain margin of error . It is true that the The certainty level is 95% , which is an extraordinarily high percentage, but there's still a small percentage where we could be wrong. In any case, the trend in the coming years is for the margin of error to continue to shrink, especially if the data is of high quality. Consequently, this is an aspect we shouldn't ignore.
2. Possibility of bias
Another problem with techniques that do not guarantee 100% effectiveness is the possibility of falling into biases . And these biases, whether for individual analysis or, above all, for group analysis, are dangerous. This therefore requires being especially rigorous and neutral when this is applied technique , also taking into account the quality of the sample. Here, once again, the ethical question comes to the table and must be raised.
In summary…
The genetic imputation is a diagnostic technique which can speed up the detection of genetic mutations, for example. Do you want to make a genetic testing at the best cost ? In Genotics You will find all the available references. Don't hesitate to consult to find what interests you most!