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Agilent SureSelect Clinical Research Exome V4 (CRE V4)

Exome designed to provide comprehensive coverage of coding regions, with additional content in clinically relevant non-coding regions.

Detailed Description

Operating Principle

SureSelect Clinical Research Exome V4 is based on library preparation and exome capture enrichment, combining broad coverage of human coding regions with enhanced content in clinically relevant non-coding regions. Its design incorporates genomic findings and includes curated deep intronic sites, mini-genomes, and additional content associated with disease and clinical applications.

The workflow is compatible with the SureSelect XT HS2 library preparation and enrichment system.

Clinical Applications

Geared towards the identification of causal variants of genetically based diseases in selected coding and non-coding regions.

Benefits

Improved identification of disease-causing variants. Speed and simplicity of an exome workflow, avoiding the cost burden, infrastructure, and bioinformatics complexity typical of WGS. Highly uniform enrichment. Efficient sequencing and native automation on Bravo and Magnis systems.

Key Results or Indicators

Coverage: The panel covers a 41.1 Mb target region with a design size of 48.5 Mb. Theoretical database coverage: 100% of the coding content of CCDS, GENCODE, and RefSeq; 100% of ClinVar P/LP variants; 100% of HGMD non-coding DM variants, and >99.9% of variants in the 73 ACMG genes.

Technology Used

The NGS workflow relies on SureSelect XT HS2 for library preparation and capture enrichment.

Validated automation on the Agilent Bravo Automated Liquid Handling platform and Agilent Magnis NGS Prep system. Optimized sequencing for Illumina platforms.
SureSelect Clinical Research Exome V4 Technology

Intended Audience / User

This product is intended for clinical genetics and molecular diagnostics laboratories that require a complete workflow, from sample to result or report generation, with extensive automation capabilities.

Key Features

Exome with 41.1 Mb coverage and an efficient 48.5 Mb design.
Database integration: coding regions from CCDS, GENCODE, and RefSeq, and clinically relevant, curated non-coding content from ClinVar, HGMD, and ACMG.
Includes: TERT promoter region, mitochondrial genome, and pharmacogenomic SNPs.
Incorporates 41 complete mini-genomes (including DMD), and probes for 43 loci related to repeat expansion disorders.
Multiplex detection: enables the detection of SNVs, indels, and CNVs in a single workflow.
Native automation: fully compatible with Agilent Bravo and Magnis systems.

Ordering Information

SureSelect XT HS Clinical Research Exome V4
5280-0020 16 reactions
5280-0021 96 reactions
5280-0022 96 reactions Auto
SureSelect XT PreCap Clinical Research Exome V4
5280-0029 2 hybridizations
5280-0030 12 hybridizations
5280-0031 12 hybridizations Auto
Magnis SureSelect XT HS2 DNA CRE V4 ILM
G9775A 32 reactions
G9775B 96 reactions

Area:

Exomes, Hereditary and/or Rare Diseases, Molecular Genetics

Brand:

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