Axiom™ 精准医学研究检测试剂盒

The Axiom Precision Medicine Research Array (PMRA) is a broad and powerful genotyping resource for researchers driving deeper scientific insights into a variety of important health questions related to common and rare inherited diseases, genetic risk profiling, immune response, pharmacogenomics research, and many other areas associated with precision medicine. This array kit includes the 1x96-format array plate, as well as an Axiom 2.0 Reagent Kit and Axiom GeneTitan Consumables Kit.

Highlights:
• Genome-wide association study (GWAS) variants
• Clinically actionable variants
• Variants to cover immune function, autoimmune diseases, and inflammatory diseases and response
• Pharmacogenomic variants
• Functional variants
• Cancer common variants
• Blood phenotype variants
• Fingerprint/sample tracking variants

The PMRA may be customized with de novo markers or markers selected from the Axiom Genomic Database of genotype-tested markers.

GWAS variants
The array includes a genome-wide imputation grid with about 800,000 markers. The GWAS module has been designed to cover the five ancestral population groups [African (AFR), admixed American (AMR), East Asian (EAS), European (EUR), and South Asian (SAS) ancestry] with the highest mean r2 genomic coverage across all ancestral populations.

Clinically actionable variants
This module includes clinically relevant variants from ClinVAR and enables assessment of actionable genetic risk across a wide range of populations.

Blood phenotype variants
These include variants selected for evidence of association with various red blood cells and platelets, regulation of blood homeostasis, and red blood cell group phenotypes

Pharmacogenomic variants
The array prioritizes inclusion of pharmacogenomics variants per CPIC guidelines and variants contributing to star allelles.

Cancer common markers
Chosen from the list of published common variants associated with cancer phenotypes identified via GWAS, as per NHGRI-EBI GWAS catalog as well as some recently published and unpublished cancer-associated SNPs.

Immune-related markers
Markers were chosen to cover immune function as well as autoimmune diseases and inflammatory diseases and response. This includes human leukocyte antigen (HLA) and killer immunoglobulin-like receptor (KIR) markers and variants were included that show evidence for association with specific autoimmune and inflammatory disorders.

Functional variants
Includes loss of function markers selected from biobank arrays as well as human disease mutation and exome databases. Markers were included to support mapping functional non-coding variations to identify genetic markers associated with gene transcription variability and differential gene expression.

Fingerprint/sample tracking variants
Axiom PMRA includes over 300 variants for sample tracking and fingerprinting to eliminate any sample contamination during analysis. These variants have been successfully used in large biobank studies to ensure sample integrity during analysis.

Please note: Reagent kits do not include plastic consumables required to run the assay on the Beckman Biomek™ FXP Target Prep Express System. For a list of required Beckman consumables, please see the Axiom 2.0 Automated Assay User Guide.