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
Milí kolegové a kolegyně,
chtěli bychom vás srdečně pozvat na další přednášku semináře, která se
koná již zítra, ve STŘEDU 19.10.2016, od 17:20 v posluchárně S5.
Přednášku bude mít Jan Kalina z Ústavu informatiky AV ČR na téma
Statistické klasifikační metody při celogenomové analýze genových
expresí
Těšíme se na vaši účast!
S pozdravem,
Petr Daněček
Stránky semináře
http://bioinformatika.mff.cuni.cz/seminar/