Experience the Genetic Energy

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.
  • The trio NA12877, NA12878 and NA12882 was sequenced to >30x depth on a HiSeq 2000 system, using a long-insert mate pair library preparation protocol.

 

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 VCF files and the documentation can be obtained from here.

 

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
  • Trio sequenced (@30-40x) using long insert mate pair library: ERP002490