Genomics

Infinium MethylationEPICTM BeadChip Technology (Illumina) Infinium MethylationEPIC BeadChip Kit, allows to interrogate more than 850,000 sites of methylation quantitatively through the genome with resolution of a single nucleotide. It provides comprehensive genome coverage, as interrogated sites include CpG sites outside CpG islands, non-CpG methylated sites identified in human stem cells (CHH sites), differentially identified methylated sites in tumors versus normal, FANTOM5 enhancers, open chromatin ENCODE and enhancers, DNase hypersensitive sites and miRNA promoting regions. The high performance is compatible with the chip analysis performed with the Illumina HiScanTM SQ fluorescent scanner and the Freedom EVO® platform. MySeqTMDx NGS Sequencer (Illumina) MiSeqDx technology is used for the targeted sequencing of DNA libraries from human genomic DNA extracted from peripheral whole blood or paraffin-embedded tissue (FFPE) fixed in formalin. It can be used for basic research purposes or for in vitro diagnostic assays (IVD). It achieves a performance of 1 to 96 samples / execution depending on the test and provides a reading length of up to 2 × 300 bp. PyroMarkTMQ48 (Qiagen) Pyrosequencing is a sequence-based platform, which integrates quantitative and real-time detection data for the analysis of short targeted DNA sequences. It is used to characterize single nucleotide polymorphisms (SNPs), insertion-deletions (indels), and unknown sequence variants, and levels of DNA methylation at both CpG and non-CpG (CpN) sites.

Global methylation studies using the Illumina DNA methylation beadchip EPIC platform and matrix-based customized genomic analyzes (SNPs, genotyping) with Illumina technology. A fluorimetric quality control of DNA samples is performed. Validation of NGS or array results using and analysis of sequence variation (SNPs, mutations, DNA methylation) by pyrosequencing using PyroMark Pyromark Q48TM. Next-generation sequencing (NGS) for the detection of genetic variants, sequencing of genes targeted with the Illumina MiSeqDx system, which is the first FDA-regulated and CE-IVD-labeled NGS platform for in vitro diagnosis (IVD) .

GINYS-IJC-004

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