As part of HT sequencing, Genechron laboratory carries out exomic projects through the targeted exome sequencing strategy.
Exome sequencing allows to concentrate on a specific genome subset, providing a cost-effectively harness of the power of next-generation sequencing.
A widespread application of exome sequencing is the search for genetic variation (SNP/indel) underlying a specific disease. It is becoming evident that the causing variants of many rare complex disease lie within the exonic region, which comprises 1-2% of the genome. Targeted exome sequencing provides a reproducible and robust strategy with high sensitivity and specificity, enabling the discover of causal variants for a range of complex human diseases.
For some of these, causative genes have been identified, and the corresponding exomic regions analysed, in order to examine the involved genes for known and novel variants. For other diseases, where causative genes are not yet known, whole exome sequencing is suitable.
Exome sequencing could be also used to investigate genetic linkage and genes differences, allowing for a complete view of our evolutionary history.

The service includes:

• New Truseq libraries Preparation
• Eventual sample Multiplexing
• Validation of the libraries using the Bioanalyzer System (Agilent) and by quantitative analysis performed in real time using the specific Library Quantification Kit (Kapabiosystems) on the 7900 HT Fast RT-PCR (Life Technologies) system
• Enrichment of DNA libraries by TruSeq(TM) Exome Enrichment kit (Illumina)
• Validation of the enriched libraries using the Bioanalyzer System (Agilent) and by quantitative analysis performed in real time using the specific Library Quantification Kit (Kapabiosystems) on the 7900 HT Fast RT-PCR (Life Technologies) system
• Hybridization and amplification of libraries on Truseq flow cell (PE) by the Cluster Station (Illumina)
• Validation of clusters amplified using GAIIx system (Illumina)
• PE sequencing using GAIIx system (Illumina)
• Analysis of data quality and filtering of FASTQ sequences
• Bioinformatics analysis