What is the gender and family relationships of your samples?

The project aims to sequence 2500 individuals in total both low coverage whole genome sequencing and exome sequencing. So far more than 1000 samples have been sequenced.

The project has a three pronged sequencing approach.

  • Low coverage whole genome sequencing. Each sample is sequenced to achieve at least 3x aligned coverage of the genome, particular attention being paided to coverage at hapmap sites.
  • High coverage exome sequencing, The targets for exome sequencing cover all of CCDS, a sample is complete when 80% of the targets have 20x coverage or greater.
  • High density genotyping. Each sample will be genotyped on a platform like the IIIumina Omni or Affymetrix Axiom platform.

All the 1000 genomes samples are completely anonymised so only gender and family relationships are available from this spreadsheet. There is also a pedigree file available from ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/working/20111108_samples_pedigree

All our populations are described with 3 letter codes like CEU or TSI. These codes are described both in our sample spreadsheet, in another FAQ question and on the ftp site in ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/README.populations

For more information about the consent samples signed please look here