Description
No. of Samples: 2x96F
Unit Size: Each
Features of the Axiom PangenomePro Plus Array include:
• Marker selection emphasizes broad imputation power across European, African, admixed American, East Asian, and South Asian populations Low input, plug-and-play analysis.
• Whole-genome analysis from as little as 100 ng genomic DNA with support for target SNP identification, CNV analysis, HLA and blood typing, and 'plug and play' data analysis workflows.
• GWAS imputation module (~850,000 markers) across ancestral populations
• Evidence-based clinical/research markers (includes references to public resources such as ACMG 73, ClinVar, NHGRI-GWAS catalog, etc)
• Pharmacogenomics coverage aligned to guideline and knowledgebase citations (e.g., CPIC, PharmGKB, PharmaADME)
• Targeted amplification access for challenging/high-homology regions
• CNV analysis for fixed regions and de novo discovery across the genomePlus assay advantageThe 'Plus' workflow unlocks pharmacogenomics content and markers for haplotypes in key genes (e.g., CYP2D6) and addresses limitations in other hybridization-based approaches via gene-specific amplification.Pharmacogenomics Knowledge Base (PharmGKB™)
• >2,000 markers in Very Important Pharmacogenes as identified by PharmGKB™
• >300 markers associated with PharmGKB™ level 1A-2B annotations
• >550 reportable alleles mentioned in Clinical Pharmacogenetics Implementation Consortium (CPIC™) guidelines
• Targeted amplification to access content in the following genes: CYP1A2, CYP2D6, CYP2B6, CYP2A6, CYP2C19, and those in in highly homologous regions such as CYP2C9, GSTM1, SULT1A1
• Disease-related variants (Alzheimer's, cancer, cardiovascular disease, cardiometabolic disease, diabetes, neurological disorders)
• Blood phenotyping variants for blood typing of common and rare blood groups, bleeding disorders, and blood conditions such as sickle cell anemia
• Human leukocyte antigen (HLA) type of 11 major MHC (major histocompatibility complex) Class I and Class II loci
• SARS-CoV-2 immune-related markers (human leukocyte antigens, killer immunoglobulin-like receptors, autoimmune markers, and inflammatory markers)
• Functional variants (loss of function variants, expression quantitative trait loci, nonsynonymous variants, lung phenotypes)
• Ancestry, wellness, and trait-related variantsPharmacogenomics Translation ReportsThe Pharmacogenomics Translation Reports include:
• >110 genes
• >75 genes reporting haplotypes
• >1000 reportable haplotypes
• >30 genes with phenotype predictions (e.g., intermediate metabolizer, etc)
