Whole-genome sequencing performed on Illumina HiSeq® systems is enabling researchers worldwide to more fully and accurately characterize the human genome. This website is your resource, providing links to new sequence data and annotations of genomic variation.
We have made the following sequence data available from the 17 member CEPH pedigree 1463:
- The whole pedigree was sequenced to 50x depth on a HiSeq 2000 system: NA12877, NA12878, NA12879, NA12880, NA12881, NA12882, NA12883, NA12884, NA12885, NA12886, NA12887, NA12888, NA12889, NA12890, NA12891, NA12892, and NA12893 (dbGaP accession: phs001224)
- Sequencing data for samples NA12877, NA12878, NA12889, NA12890, NA12891 and NA12892 are available through BaseSpace Sequence Hub and the European Nucleotide Archive (ENA accession: PRJEB3381)
- NA12877 and NA12878 were sequenced to 200x depth on a HiSeq 2000 system (ENA accession: PRJEB3246)
We have derived a set of high-confidence variant calls for NA12877 and NA12878, by taking into account the inheritance constraints in the pedigree and the concordance of variant calls across different methods. The VCFs with the high-confidence calls can be obtained as follows:
- The Platinum Genomes GitHub repository has pointers on how to download truthset VCF files from AWS, as well as additional documentation and news
- From our FTP site. If this link doesn't work in your browser try to directly ftp to ussd-ftp.illumina.com, with username=platgene_ro and empty password.
- From the Platinum Genomes project in BaseSpace Sequence Hub.
See the Platinum Genomes manuscript for a full description of the methods and data used to generate these Platinum callsets:
- Eberle, MA et al. (2017) A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree. Genome Research 27: 157-164. doi:10.1101/gr.210500.116
Please cite this manuscript in publications and other public usage of Platinum Genomes.
If you have any questions, contact us at: email@example.com or open an issue on our GitHub repository. Please note that while Platinum Genomes are freely available, Illumina does not offer technical support for these resources.