What are biobanks? Part 5

There are lots of genome data bases. Here we are going to focus on the general ideas, and for example the journal Nucleic Acid Research publishes every year, lots of information on new data bases. Have a look at this slight in the arrow says that this paper is open, means that is free for everybody to have a look at that, so we don’t have to pay a subscription to read the full article.

The idea is: you don’t have to pay for the article; we don’t have to pay for looking at the genetic information that has been produced by other researchers using public funding. The idea then is to go to genome data bases and there are a lot of this genome data bases. Sometimes is difficult to know which is the data base that betters suits a given interest, and here we are going to see some of that just to have a general overview of the huge amount of information around.

Something very simple, from a SNP, from studies of GWAS that we saw some lessons ago, the production of data for the project called Thousand Genome Project, the project called Personal Genome Project and the Cancer Genomes Projects…, we’re going to have a view on that. The first very is simple is that for every look at that variant in a given genome there is a data base in which all of them are there, so you can look at this DBSNP and here for example you have that case of one variant that is the variant of the F5 gene that we saw because this is the gene that is very important for blood clotting and this is the variant that myself I have, and that may produce problems of deep vein thrombosis.

But like that there are millions of variants in the genome. We have already seen that nowadays we have lots of information of the genetic base of complex traits. There are lots of publications, here you have that we have more than 3 thousand publications and the association of the specific genetic variant with the given complex traits is close to 60 thousand, that’s a lot.

There is a data base and here you have the information plotted in a nice way, it is useless but is nice to see, you have to whole genome and on the right you have the chromosome one and two and you can see that every spot means that a variant has been described that gives a given association susceptibility to a given complex disease.