INVIEW Human Exome

In additon we also offer the Clinical Research Exome CRE V4. Learn more >>

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.

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 50x
  • Approx. 50x 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)

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

INVIEW Human Exome Standard (100x & 30x)

• 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 Standard 50x

• 25 days up to 120 samples
• 29 days up to 240 samples
• 35 days up to 480 samples

INVIEW Human Exome Premium

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

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.

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