GENEQUALITY^®Whole Exome Sequencing Kit

Description

The GENEQUALITY^® Whole Exome Sequencing kit is a CE-IVD device for the preparation of libraries enriched for the exome and mitochondrial genome, compatible with next-generation sequencing (NGS) applications.

Product Characteristics

• It is capable of sequencing approximately 42Mb of the human exome (19,441 genes covered) and includes the mitochondrial genome
• The kit detects: CNVs, InDels, SNPs, SNVs
• The device is validated on DNA extracted from whole blood
• Between 10ng and 500ng of extracted DNA is required
• When used in conjunction with GENEQUALITY^® Library Prep kits, GENEQUALITY^® Purification kits, and GENEQUALITY^® Unique Dual Indexes, it allows the preparation of libraries for NGS sequencing
• It is validated on Illumina sequencing platforms: (NovaSeq6000, NextSeq500/550)
• The kit is CE-IVD certified in accordance with EU Regulation 2017/746 (IVDR)

Kit content

• The device contains all the reagents necessary for the preparation of genomic libraries

Further Information

Whole Exome Sequencing (WES) is a high-throughput Next-Generation Sequencing (NGS) technique designed to capture and sequence the protein-coding exonic regions (exons) of the human genome. WES allows the analysis of a vast number of DNA fragments, providing the sequence of the entire coding genomic region of an individual, which comprises approximately 20,000 genes, enabling detailed analysis of potential genetic contributions associated with pathological conditions. Although the coding region represents only 1% of the entire genome, it is estimated that up to 85% of all pathogenic mutations fall within this region.

Exome sequencing includes two main processes: target enrichment and sequencing. In the target enrichment phase, the exome is selected and captured from the DNA sample through library preparation, which involves DNA fragmentation and the attachment of adapter and index sequences for subsequent sequencing. The next step involves target enrichment through hybrid capture of biotinylated probes specifically designed to capture exonic regions and the mitochondrial genome. Specific enrichment ensures preferential sequencing of coding sequences, minimizing the sequencing of non-coding regions. The prepared library is then subjected to high-throughput sequencing with Illumina platforms. The resulting sequencing data undergo bioinformatic analysis, which includes alignment to the reference genome, variant calling, and annotation. This rigorous computational process aims to identify single nucleotide variants (SNVs), insertions, deletions, and structural variations within the exonic regions. Comprehensive analysis allows the identification of genetic variations associated with diseases or conditions of interest.

Ordering Information