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).
- The trio NA12877, NA12878, and NA12882 was sequenced to 200x depth on a HiSeq 2000 system.
- A technical replicate of NA12882 was sequenced to 200x depth on a HiSeq 2000 system.
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:
- 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 our recently submitted manuscript on bioRxiv for more details about the methods. Please cite this manuscript in publications and other public usage of Platinum Genomes.
Raw data from these sequencing runs are available at the European Nucleotide Archive under the following accession numbers:
- PCR-free pedigree (@50x): ERP001960
- PCR-free Trio and one technical replicate (@200x): ERP001775
The raw data are also available from the Platinum Genomes project in BaseSpace Sequence Hub. For the FASTQ files, please navigate to the "Samples" section.
If you have any questions, contact us at: firstname.lastname@example.org. Please note that while Platinum Genomes are freely available, Illumina does not offer technical support for these resources.