We have sequenced at the Broad Institute and released to the 1000 Genomes Project the following datasets for the three members of the CEU trio (NA12878, NA12891 and NA12892):
This is better data to work with than the original DePristo et al. BAMs files, so we recommend you download and analyze these files if you are looking for complete, large-scale data sets to evaluate the GATK or other tools.
Here's the rough library properties of the BAMs:
These data files can be downloaded from the 1000 Genomes DCC
Here are the datasets we used in the GATK paper cited below.
DePristo M, Banks E, Poplin R, Garimella K, Maguire J, Hartl C, Philippakis A, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell T, Kernytsky A, Sivachenko A, Cibulskis K, Gabriel S, Altshuler D and Daly, M (2011). A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics. 43:491-498.
Some of the BAM and VCF files are currently hosted by the NCBI: ftp://ftp-trace.ncbi.nih.gov/1000genomes/ftp/technical/working/20101201_cg_NA12878/
-- targetsused in the analysis of the exome capture data
Please note that we have not collected the indel calls for the paper, as these are only used for filtering SNPs near indels. If you want to call accurate indels, please use the new GATK indel caller in the Unified Genotyper.
Both the GATK and the sequencing technologies have improved significantly since the analyses performed in this paper.
If you are conducting a review today, we would recommend that the newest version of the GATK, which performs much better than the version described in the paper. Moreover, we would also recommend one use the newest version of Crossbow as well, in case they have improved things. The GATK calls for NA12878 from the paper (above) will give one a good idea what a good call set looks like whole-genome or whole-exome.
Obviously, this was an annoyance for us as well, as it would have been nice to use a state-of-the-art data set for the WEx. But we decided to freeze the data used for analysis to actually finish this paper.
If you want the raw, machine output for the data analyzed in the GATK framework paper, obtain the raw BAM files above and convert them from SAM to FASTQ using the Picard tool SamToFastq.