Systematic assessment of inherited genetic variation

INVIEW Human Exome Explore is a one-stop solution for next-generation sequencing of human exons.

The service offers fast, cost-efficient and accurate exome analysis based on optimized enrichment protocols, as well as use of leading sequencing platforms and streamlined BioIT pipelines.  Scientists can benefit from accurate analysis of germline mutations that are very important in studies on inherited diseases and molecular evolution.   

Typical applications for INVIEW Human Exome Explore include:

• Research on hereditary cancer, childhood cancer, genetic disorders
• Pharmacogenetic studies
• Evaluation of genetic disease predisposition and risk
• Analysis of cancer predisposition
• Patient stratification in clinical trials
• Evaluation of polymorphisms in the human population

Highlights INVIEW Human Exome Explore

• Use of highly efficient protocols for coverage of hard-to-capture exons
• Whole-exome sequencing under diagnostics standards
• Option to apply QIAGEN’s Ingenuity Variant Analysis for biological variant interpretation

Full service package offered by INVIEW Human Exome Explore including

• Next-generation sequencing (NGS) of human exons
• Highly efficient exome enrichment
• Library preparation with continuous QC
• Sequencing on leading Illumina platforms
• Convenient batch size starting with a minimum of 4 samples

Accepted starting material for INVIEW Exome Explore

• At least 100 ng double-stranded, purified, high-molecular-weight, RNA-free DNA (concentration ≥ 5 ng/µL; OD 260/280 ≥ 1.8; OD 260/230 ≥ 1.9)

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 material classified as S2.

Specifications

Sequencing technology

• Illumina 150 bp paired-end sequencing
• Industry-leading Agilent SureSelect Human All Exon V6 Kit

Bioinformatic analysis

• Streamlined BioIT pipeline for exome variant filtering, annotation and interpretation
• Automatic mapping against a genomic reference and filtering of targeted regions
• Highly accurate annotation of SNPs and InDels (using dbSNP)
• List of genetic variants with related information on gene ID, amino acid change, functional class and additional statistics
• Assignment of effects on protein level (using Ensembl)

Results delivered

• Alignment file (bam)
• SNP and InDel tables including annotated variants and effects (vcf, tsv, bed)
• Comprehensive Data Analysis Report (pdf)

Bioinformatics analysis using Ingenuity® Variant Analysis

Detection of causative variants from sequencing data

Ingenuity® Variant Analysis™ allows for rapid identification of the most relevant variants in human exome sequencing. A combination of powerful analytical tools and content from the Ingenuity® 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 Human Exome with QIAGEN’s Ingenuity Variant Analysis, GATC Biotech 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 analyzing and interpreting your exome sequencing data in order to detect causal variants in sequenced human DNA. Ingenuity Variant Analysis is intended for molecular biology applications and is not intended for the diagnosis, prevention or treatment of disease.

Visit www.ingenuity.com/variants to learn more about the variant analysis services offered. For up-to-date licensing information and product-specific disclaimers, see the corresponding QIAGEN product site. Further information can be requested from support@ingenuity.com