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Where are your reference data sets?

Answer:

Our reference data sets can be found in technical/reference/ and this includes items like the reference genome, ancestral alignments and standard annotation sets.

There is also a frozen version of the reference data used for the pilot project available in pilot_data/technical/reference

Related questions:

Which reference assembly do you use?

Answer:

The reference assembly the 1000 Genomes Project has mapped sequence data to has changed over the course of the project.

For the pilot phase we mapped data to NCBI36. A copy of our reference fasta file can be found on the ftp site.

For the phase 1 and phase 3 analysis we mapped to GRCh37. Our fasta file which can be found here called human_g1k_v37.fasta.gz, it contains the autosomes, X, Y and MT but no haplotype sequence or EBV.

We are currently in the process of remapping the final phase 3 data onto GRCh38.

Related questions: