• Exome Seq
  • Whole Genome
  • RNA Seq
  • Customized solution

Whole genome sequencing provides the most complete picture of the overall genetic variability in an individual. It can be applied, using different sequencing depth, in oncology, to the study of rare disease, and in large scale population studies.

Human whole-genomes are sequenced with the latest Illumina's HiSeq 3000 technology , which makes whole-genome sequencing increasingly cost-effective. Our sequencing platform has successfully sequenced thousands of genomes in the context of two studies on the genetics of autoimmune diseases and longevity.

Sequencing strategy

  • Latest Illumina's HiSeq 3000 systems with 150bp paired-end sequencing

Data quality

  • > 85% of bases have a phred quality score ≥ Q30

Turnaround time

  • Standard turnaround time is 8 weeks after quality evaluation of the samples

Sample requirements

  • The minimum amount of DNA without sample amplification is 5μg in a volume of 20μl.
  • DNA must be suspended in TRIS or water – PLEASE DO NOT USE BUFFER CONTAINING EDTA

Data analysis

  • SNP and INDEL calling
  • Advanced analysis including annotations (allele frequencies in reference datasets - ExAC, 1000Genome, ESP6500; predicted pathogenicity; functional annotations at transcript level with multiple databases - UCSC, Ensembl, RefGene, Gencode) and genetic inheritance
  • Additional analysis are available: CNV, extended annotations for non-coding regions
  • Custom population scale analysis are available
  • Remote access to alignments for visual inspection using IGV
  • Additionally raw data are available via secure cloud

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