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Skip to 0 minutes and 14 seconds Some years ago, it was launched the Thousand Genome Project in which the idea was to have an idea of the genetic variation among humans and these are the population that were gathered and initially in the HapMap Project it was the genotyping of specific SNPs and now we have whole genome sequences. These sequences again, these are totally freely available for the research community and this really begins to be a huge amount of information.

Skip to 0 minutes and 54 seconds So, in this case what we have is a lot of information for this cases in which again it has been taken into consideration all the ELSI issues mainly the consent, the informed consent of the individual, a population engagement, in some cases it has been produced also cell lines and the idea is that for these individuals we have a general overview of their genome and the amount of variation among humans. Still for these individuals we don’t have phenotypes and of course the samples, the sequences are totally anonymized.

Skip to 1 minute and 43 seconds As a counterpart of this project in which we don’t have information of the individuals and just following the point in which lots of people began saying “oh we don’t know whether this information should be put in a public data base”, has been another interesting project in which people put everything open.

Skip to 2 minutes and 11 seconds So, the name and all the phenotype data that has been gathered for these people, has been put together in a data base that is fully accessible and this is called the Personal Genome Project in which George Church from Harvard began this initiative and made all the information open just to say that we are gaining as society a lot having this information open and that the possible drawbacks of having this information public is not as important as some people are saying, so this is a global network of personal genome projects in which data is public non-anonymized, open consent, so not for profit and here we have just what may be a new generation of genome information that is going to be open to the public.

Skip to 3 minutes and 23 seconds And last to finish, the data produced by the Cancer Projects. There is the International Cancer Genome Contortion and there is also the Cancer Genome Atlas of the United States in which we have lots and lots of data, and in these cases we have in general the genome of the individual and the genome of the cancer tissues and the idea is to compare the two and see which are the driving changes that make the cancer happen in this individual.

Skip to 3 minutes and 57 seconds Just to finish there is a special case in Iceland which the company DeCode has put together also a biobank and they have gathered information for a big part of the population and they have at the same time information, genealogical information, they have genetic information, they have health information and with that they are able, thanks to the strength of Kari Stefansson, they are doing incredible interesting analysis manly due to the peculiarities of the Icelandic population for which they have genealogies of many generations.

Skip to 4 minutes and 44 seconds We have seen the encounter of biomedicine, of genomics with big data; we have seen the importance of biobanks and how is it going to develop in the future and the problems, technical and ELSI problems of genome data bases, problems that must be solved because we need to advance in our research.

What are biobanks? Part 6

Biobanks are organized collections of human biological material. They are used to produce and store a lot of associated information for research purposes. How should they be dealt with?

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Why Biology Matters: The Genome and You

Pompeu Fabra University Barcelona