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.
Click here to view the following datasets in the UCSC genome browser.
- A 17 member CEPH pedigree 1463 (NA12877, NA12878, NA12879, NA12880, NA12881, NA12882, NA12883, NA12884, NA12885, NA12886, NA12887, NA12888, NA12889, NA12890, NA12891, NA12892, and NA12892) sequenced to 50x depth on a HiSeq 2000 system.
- A family trio (NA12877, NA12878, and NA12882) sequenced to 200x on a HiSeq 2000 system.
- A technical replicate of NA12882 sequenced to 200x depth on a HiSeq 2000 system.
- Long insert mate pair library sequence of a family trio (NA12877, NA12878 and NA12882) Sequenced to >30x depth on a HiSeq 2000 system.
- An individual (NA18507) sequenced on a HiSeq 2500 system.
- Gold standard variant calls will be available soon.
Genome vcf files for the full 17 member pedigree made using BWA + GATK are available here.
Raw data from these sequencing runs is being made available at the European Nucleotide Archive under the following accession numbers:
PCR-free pedigree (@50x)
PCR-free Trio and one technical replicate (@200x)
Trio sequenced (@30-40x) using long insert mate pair library
"Genome in a Day"
Watch this site for additional datasets and analyses.