The right answers to frequently asked questions
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What kind of samples can be processed with INVIEW Twist Exome?
We accept tissue, cells and blood as starting material for INVIEW Twist Exome. Whole-genome amplified (WGA) DNA or DNA from archived tissue, such as Formalin-Fixed Paraffin Embedded (FFPE) samples, is usually accepted. Please contact us if you need any details.
How much starting material should I send?
Data output only applies for freshly isolated, unamplified and pure human DNA samples (minimum 200 ng). Please note that contamination by DNA of other species (> 3 %; especially from closely related organisms) reduces the total amount of human DNA in the provided sample and it might interfere with the enrichment of the exonic region.
Which genes are enriched?
For the best possible coverage (> 99%) of protein coding genes in the human genome, we are using a combination of two panels. The Twist Human Core Exome (33 Mb) and the Twist Human RefSeq Panel (3.6Mb).
How do you handle PCR duplicates?
The rate of PCR duplicates correlates notably with the amount and quality of the provided sample material. However, with our optimized and fully automated library preparation process with sample type dependent DNA input and limited number of PCR cycles we increase library complexity and deliver the lowest possible PCR duplicate rate out of the provided DNA sample.
In addition, due to the patterned flow cell used for HiSeq4000 and NovaSeq6000 sequencers, the rate of PCR duplicates may be increased by technical duplicates.
If you order Bio-IT analyses of your samples (e.g. SNP identification) only one copy of the duplicate read pair is kept in the alignment. The remaining duplicates are excluded from further analysis to prevent bias.
Are all genes covered with 10 Mio read pairs?
Eurofins Genomics applies the latest Twist Bioscience technology with its dsDNA probes and specific probe design algorithm for efficient and uniform capturing of all possible target regions. In addition, our library preparation process is optimized to minimize amplification and enrichment bias.
Nevertheless, there might be some hard-to-cover regions, due their biological nature (e.g. high AT or GC content).
What is the quality of the data?
For human samples sequenced with 150 bp paired-end mode, Eurofins Genomics typically achieves over 95% of base calls with a quality value higher than Q30 ( >99.9 % accuracy).
Where do I get my results and in which form are they delivered?
The alignment file (bam), the SNP and InDel tables (vcf and tsv) and the Data Analysis Report (pdf) will be delivered in the given formats via your Ecom account.
How does data processing with QIAGEN’s Ingenuity Variant Analysis work?
Should you choose optional access to QIAGEN’s Ingenuity Variant Analysis platform, all raw data will be analysed and converted into a vcf file, and then directly uploaded to QIAGEN’s web-based software platform. Log-in data to your personal account will be provided by Eurofins Genomics.
Please note! Customer must accept QIAGEN’s End User License Agreement before access is granted to Ingenuity Variant Analysis and any data generated from the service.
How long is my data accessible at my QIAGEN account?
The license grants access to the analysis software for six months. After this period, an optional renewal of the license can be purchased offline exclusively – please contact us.
How should I choose between INVIEW Twist Exome and INVIEW Human Exome Advance?
Both INVIEW Twist Exome and INVIEW Human Exome Advance are excellent one-stop solutions for whole exome sequencing. The products offer sequencing according to diagnostic standards (ISO17025) and comparable BioIT pipelines for data analysis. Both services also offer complementary data processing with QIAGEN’s Ingenuity Variant Analysis. The two products vary slightly in their workflows, applications and associated costs
INVIEW Twist Exome is the most cost-efficient solution for whole exome sequencing. The product is ideal for analysis of germline mutations.
INVIEW Human Exome Advance is a more flexible whole exome sequencing solution. Inview Exome Advance is offered with guaranteed average on target coverage in multiples of 30x. The product can be used for analysis of both germline and somatic mutations.
Where should I send my samples?
Eurofins Genomics Europe Sequencing GmbH