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INVIEW Human Exome

 

 

Express delivery: Receive your results in 9 days.



INVIEW Human Exome combines the latest technologies with upstream and downstream automation to provide a complete, pre-designed package with robust stability and enhanced efficiency.

 

 

 

 

 

 

 

Highlights

 

  • 9 day express turnaround time
  • Individual batch size starting from one sample
  • Improved coverage of hard-to-capture regions
  • Optimised protocol for superior, uniform exome coverage
  • Whole-exome sequencing, fully automated, under diagnostics standards (ISO 17025)
  • Rapid variant detection and prioritisation of variants with QIAGEN‘s QCI Interpret Translational™

Gold Standard or Premium - Your Choice

 

INVIEW Human Exome Gold Standard

  • Pre-capture pooling of samples
  • 100x average on target coverage
  • Highly cost-effective
  • Optional flexible coverage starting from 30x


INVIEW Human Exome Premium

  • Flexible exome coverage from the first sample
  • Individual sample processing
  • Delivery time from only 9 days

 

 

 

 

 

Product Specifications & Ordering

 

Comparison table

Starting material

Accepted starting material 

 

  • 100 ng for Qubit quantified gDNA (up to 100 µl / concentration > 1 ng/µl), Qubit quantified
  • 200 ng for Qubit quantified DNA from FFPE (up to 100µl / concentration >2 ng/µl)
  • QC passed: if DQN ≥ 4.0, Threshold = 10.000 (gDNA); if DQN ≥ 2.0, Threshold = 1.000 (FFPE DNA)

 

Please note, that only S1-classified material is accepted for DNA isolation ordered online. More information about current classification of biological material can be found here (TRBA 466). Please contact us for further information on DNA isolation from other starting material such as environmental or industrial samples or material classified as S2.

Sequencing specifications & capture protocol

2 x 150 bp paired-end sequencing mode on Illumina

Latest Agilent SureSelect Human All Exon V8 Kit

 

Choose between different coverage options

  • Exome Standard 100x
    • Approx. 100x on target coverage
    • Indexing before capture protocol (pre-capture)

 

  • Exome Standard 30x
    • Approx. 30x on target coverage
    • Flexible add-on coverage as multiples of 10x
    • Indexing before capture protocol (pre-capture)

 

  • Exome Premium 30x
    • Guaranteed 30x on target coverage
    • Flexible add-on coverage as multiples of 10x (guaranteed)
    • Indexing after capture protocol (post-capture)

Bioinformatics analysis

This service includes:

  • Mapping against genomic reference
  • Targeted region filtering
  • Alignment refinement
  • Detection of SNPs and InDels
  • Annotation of detected SNPs and InDels (using dbSNP)
  • Allocation of effects on protein level (using Ensembl)

 


Deliverables:

  • Alignment file (bam)
  • SNP and InDel tables including annotated variants and effects (vcf, tsv, bed)
  • Comprehensive data analysis report (pdf)

Bioinformatics analysis using QCI Interpret Translational

Detection of causative variants from sequencing data

QCI Interpret Translational™ allows for rapid identification of the most relevant variants in human exome sequencing. A combination of powerful analytical tools and content from the QCI Knowledge Base enables:

  • Rapid variant analysis within hours
  • Variant prioritisation based on biologically relevant filter criteria
  • Variant filtering based on profound data from several cancers, kindred, proband and cohort studies

 

If you complement INVIEW Whole Exome (60 Mb) with QIAGEN’s QCI Interpret Translational, Eurofins Genomics will provide you with an account and log-in data to QIAGEN’s web-based software platform. Your vcf-files are directly uploaded into this account – ready for analysis. This combination provides an integrated solution for discretely analysing and interpreting your exome sequencing data in order to detect causal variants in sequenced human DNA. QCI Interpret Translational is intended for molecular biology applications and is not intended for the diagnosis, prevention or treatment of disease.

For up-to-date licensing information and product-specific disclaimers, see the corresponding QIAGEN product site.

 

Delivery time

INVIEW Human Exome Standard

  • 20 days up to 120 samples
  • 24 days up to 240 samples
  • 30 days up to 480 samples
  • Express TAT
    • 9 days up to 24 samples
    • 14 days up to 48 samples

 

INVIEW Human Exome Premium

  • 9 days up to 24 samples
  • 14 days up to 48 samples

Background information about Exome sequencing

The exome accounts for ~1% of the human genome and consists of functionally relevant coding regions (exons) which are most likely to cause differences in phenotypes. Exome enrichment is a powerful tool for discovering relevant variations by sequencing only a fraction of the human genome.

 

Exome analyses provide greater insight into these target regions providing valuable information for the following:

 

  • Disease studies
  • Pharmacogenomics
  • Pharmacogenetics
  • Clinical research
  • Genetic predisposition analyses
  • Evolutionary biology research (population-based studies within and between populations

 

When combined with the latest Agilent post-capture enrichment methods, our specific protocols for fully automated lab workflows allow you to perform advanced exome analysis that provide the following:

 

  • More targeted genes from current annotation databases, including hard-to-capture exonic regions
  • Unbiased, deeper sequencing information
  • Exceptional coverage uniformity across the entire exome
  • Balanced coverage of active genes

 

Learn more about human exome sequencing  and exome sequencing in oncology.

 

Testimonials for Eurofins' long-term expertise in exome sequencing

Our customers benefit from our expertise with next-generation sequencing and rely on our high quality standard and certifications. INVIEW Human Exome Advance is the result of our customer-driven innovation process in close collaboration with partners from the DKFZ (Deutsches Krebsforschungszentrum) and the NCT (Nationales Centrum für Tumorerkrankungen) in Heidelberg, Germany.

 

“With INVIEW Human Exome we found the perfect tool for our clinical exome sequencing. High-quality exome sequencing data from Eurofins Genomics allows us to achieve an average diagnostic success rate of about 70%. The remarkable coverage uniformity retained by the latest chemistry as well as the flexibility in terms of delivery times and the data generated are particularly invaluable for our application in diagnostics. Prof. Dr. Wolfgang Schmidt, Lab head of Neuromuscular Research Dept., Medical University of Vienna, Vienna

 

ICGC Initiative: Sequencing for the International Cancer Genome Consortium
“…we are continuing this successful collaboration (with GATC Biotech).“
Prof. Dr. Peter Lichter, Head of Molecular Genetics, DKFZ, Heidelberg

 

 

 

Literature

 

 

 

 

 

 

 

 

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Quality is important for us

Our products and services are produced and performed under strict quality management and quality assurance systems.

Find certificates here