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.
With this product you are able to:
- Evaluate workflow integrity from pre-analytical DNA extraction to post-analytical bioinformatics
- Analyze the performance of your pipeline by comparing to freely available datasets through the Personal Genome Project (PGP)
- Optimize and validate your whole genome NGS pipeline with well-characterized standards
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
Unit Size: 10 FFPE Sections
Extractable DNA: ≥ 400 ng per section using Promega Maxwell LEV Plus FFPE DNA Extraction kit
Intended Use: For routine performance monitoring (Research Use Only)
Allelic Frequency: No
Cell Line Background: Available here
Genotype: Sanger sequencing of locus specific PCR
Quality: Agarose gel electrophoresis
We accept orders using the following methods.
Our online catalog and ordering system can be used to search our full menu of available Reference Standards. Select your desired reference standards and add them to the shopping basket. Your order can be submitted instantly using credit card, telephone ordering or a purchase order number as the preferred payment method.
If you prefer to send us orders outside our online ordering system, please see the Contact Us page for telephone, fax, and email details in order to place an order. We recommend that you use our online system to identify the products you require and their respective “HD” product codes.
To order offline we will require the following information:
- Product code(s) of the item(s) you wish to order (e.g. "HD123")
- Your name, email address, title and organization
- Shipping address and billing address with contact names
- Purchase Order number if you have one
- Telephone number
- VAT Number (European Countries only)
Shipping information for all territories can be found on our Shipping Charges page. This includes Shipping and Handling fees, as well as shipping conditions for each product range.
If you’re having trouble ordering or finding what you’re looking for, or if you require something we don’t yet offer, please contact us.