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SUMMARY:The 1000 Genomes Project and Beyond - Laura Clarke1 1000 Genome Pr
 oject Consortium\, EMBL-EBI\, Wellcome Trust Sanger Institute
DTSTART:20150326T143000Z
DTEND:20150326T153000Z
UID:TALK58076@talks.cam.ac.uk
CONTACT:Dr. Monica Vega-Hernandez
DESCRIPTION:The 1000 Genomes Project provides an essential reference catal
 og of human variation with more than 60 million variant sites ranging from
  single nucleotide polymorphisms to structural variant events including in
 versions and duplications. Also provided are global allele frequencies and
  genotypes for 2535 individuals from 26 different populations across Europ
 e\, Africa\, East and South Asia and the Americas\, which enable many othe
 r projects to better interpret their results. Primary uses for the 1000 Ge
 nomes data sets include imputation panels to create whole genome variant s
 ets from exome or array-based genotypes\; as filters of “normal” or sh
 ared variation in rare disease or cancer sequencing projects\; and to expl
 ore demography and selection in human populations.\n \nThe 1000 Genomes Pr
 oject is now drawing to a close. Here we describe plans to maintain the re
 source in order to ensure it remains the valuable data set it is today by 
 providing long-term support for the 1000 Genomes Project resource. We will
  continue to host both the FTP site (ftp://ftp.1000genomes.ebi.ac.uk/vol1/
 ftp) and the project website (http://www.1000genomes.org) to ensure the co
 mmunity can access both the raw data and the documentation about the proje
 ct. There will also be a stable version of the 1000 Genomes Browser (brows
 er.1000genomes.org) based on the project's final date release. This projec
 t specific Ensembl-based browser displays all of the 1000 Genomes variants
  as soon as possible and will use the GRCh37 assembly of the human referen
 ce genome.\n \nWe will also maintain the existing tools and incorporate ne
 w ones as appropriate to enable users to easily access the data they desir
 e. Our most popular tools are the Data Slicer—that allows users to selec
 t genomic subsections of our alignment (BAM) and variant (VCF) files and t
 hus download just the piece of the file they need—and the Variation Patt
 ern Finder\, which allows users to discover patterns of shared variation i
 n a specific region of the genome. Other tools include the VCF to PED conv
 erter\, which allows users to generated PLINK format files from remotely h
 osted VCF files and the recently introduced the Allele Frequency Calculato
 r that will calculate allele frequencies in bulk for specific sub populati
 ons from our VCF files.
LOCATION:4th floor Cockcroft building\, New Museums Site\, Pembroke Street
 \, Cambridge CB2 3QG
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