Estándar de referencia de genoma completo de hijo Asquenazi PGP (formato FFPE) =400 ng_10 piezas

Next generation sequencing (NGS) platforms give researchers much greater power when profiling both somatic and germline mutations. However, the use of NGS presents challenges surrounding sample variability, platform bias, and potential failure to detect mutations of interest. Horizon has harnessed its’ proprietary FFPE processing capabilities to generate ‘Well Characterized Genome’ (WCG) FFPE samples, in collaboration with the Genome in a Bottle Consortium (GIAB). The GIAB is a consortium initiated by the National Institute of Standards and Technology (NIST) to develop the reference materials, reference methods, and reference data needed to support confidence in human whole genome variant calls. Horizon shares the Consortium’s goals of translating NGS sequencing to clinical applications through a community standards development effort. Horizons’ method of mild fixation and homogenous paraffin embedding generates highly-reproducible and consistent FFPE curls. With any commercially available FFPE extraction protocol, our standards yield high molecular weight DNA. The GIAB standards include the Personal Genome Project participants: GIAB Ashkenazim Trio (Mother, GM24143; Father, GM24149; Son, GM24385) and Asian Son (GM24631).

The GIAB FFPE Reference Standards may be utilised as a renewable standard to maintain assay consistency and drive confident interpretation of multiplex data. Due to the highly-characterized nature of these Reference Standards (with Illumina, Ion Torrent, and PacBio sequencing), these samples are ideal as controls for the validation and development of whole-genome sequencing protocols.

Technical Data

• Genes Covered Full Genome Fixation Method 4%
• Formalin Section Size 15µm or 20µm
• Cell Density 3 x 108 cells per block.
• Approx. 3.5 x 105 cells per section
• Expected DNA Yield ≥ 400 ng using Promega Maxwell LEV Plus Extraction kit
• Product information- please check in the Horizon webpage https://www.horizondiscovery.com