Omlouvám se, uvedl jsem v emailu chybné datum. Jedná se o tuto středu, ale datum je 2.11. Snad jsem tím nikoho nezmátnul.
S pozdravem, Petr Daněček
On Fri, 2016-10-28 at 10:24 +0100, Petr Danecek wrote:
Milí kolegové a kolegyně,
chtěli bychom vás srdečně pozvat na další přednášku semináře, která se koná ve středu 1.11.2016, od 17:20 v posluchárně S5.
Hostem na semináři bude Holly Zheng-Bradley z EBI, European Bioinformatics Institute, UK a téma přednášky bude "The 1000 Genomes Project, what is it and can it help my research?"
Těšíme se srdečně na vaši účast!
Za všechny organizátory semináře s pozdravem, Petr Daněček
Stránky semináře http://bioinformatika.mff.cuni.cz/seminar/
The 1000 Genomes Project, what is it and can it help my research? Holly Zheng-Bradley
Launched in 2008, the 1000 Genomes Project is the first project to sequence large number of individuals using the Next Gen sequencing platforms. The main goal of the 1000 Genomes Project was to establish a comprehensive catalogue of human genome variations; which in turn will empower association studies to identify disease-causing genes and serve as a foundation to investigate relationships between genotype and phenotype.
The project went through different phases - the pilot phase to work out the methodology and the main production phases to produce sequencing data and discover genetic variants in accumulatively 2504 individuals from 26 different populations across Europe, Africa, East and South Asia and the Americas. The final data release made by the project in 2015 includes more than 80 million variant sites ranging from single nucleotide polymorphisms to structural variant events including inversions and duplications; global allele frequencies and genotypes were estimated for all sites based on the 2504 individuals [1]. This resource has enabled many other projects to better interpret their results. Primary uses for the 1000 Genomes data sets include serving as imputation panels to derive whole genome variant sets from exome or array-based genotypes; as filters of shared variation in rare disease or cancer sequencing projects; and for exploring demography and selection in human populations and evolution.
Although the 1000 Genomes Project has reached its goal and finished successfully, the usage of the resource remains high. The International Sample Genome Resource (IGSR) was launched in January 2015 to maintain, update and expand this valuable reference data set. One of the initial updates is mapping all sequence data to the new reference genome GRCh38. The IGSR will maintain the FTP site [2], the project website [3] and a stable data browser [4] to ensure the community can access both the data and the documentation about the 1000 Genomes Project and beyond.
In my talk I will introduce the history, methods and strategies used by the 1000 Genomes Project, and discuss lessons and knowledge learned from the data we generated. I will also talk about applications of this resource and how the science community can best access the data.
[1] 1000 Genomes Project Consortium, Auton A, Brooks LD et al. 2015 A global reference for human genetic variation. Nature 526:68-74. [2] ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/ [3] http://www.1000genomes.org and www.internationalgenome.org [4] http://browser.1000genomes.org