Prenatal diagnosis of genetic diseases using Python

Track:
~ None of these topics
Type:
Talk
Level:
beginner
Duration:
30 minutes

Abstract

4% of newborns carry a genetic disease. The use of preimplantation and prenatal diagnostic methods is essential to know how to manage and control these pregnancies. This is possible today thanks to the rise of genetic sequencing technologies, but their output is not so easy to manage. Here is where the use of programming can help us, automating and facilitating the whole analysis process. That is exactly what we will do in this talk: using Python to elucidate, as an example, the presence of mutations associated with epidermolysis bullosa (also known as 'butterfly skin') in the DNA of an embryo or fetus from a sample of the pregnant person. We will also review essential issues of regulation and quality control of these clinical tools, as well as other health applications and responsibilities associated with these technologies (so as not to fall, for example, into eugenics).