The Applied Biosystems™ Axiom™ PangenomiX and Axiom™ PangenomiX Plus arrays are human genotyping research arrays designed for whole-genome imputation with globally diverse population coverage.
They are an essential research tool in human genomics for applications such as genome-wide association studies (GWASs), population health initiatives, polygenic risk score development and implementation, and clinical research studies in drug discovery. The Axiom PangenomiX and Axiom PangenomiX Plus arrays can scan the whole genome from as little as 100 ng of genomic DNA. This enables identification of single-nucleotide polymorphisms (SNPs), analysis of copy number variants (CNVs), human leukocyte antigen (HLA) typing, and more in a single, cost-effective assay with ready-to-use data analysis.
More than 800,000 markers were selected for high genomic coverage from phase 3 of the 1000 Genomes Project, yielding coverage for European, African, admixed American, East Asian, and South Asian populations. This means variants prevalent in different populations can be accurately represented and accounted for, leading to more inclusive research outcomes
Features of the Axiom PangenomiX Array:
- Global population coverage—more than 800,000 markers across five ancestries: African, admixed American, East Asian, South Asian, and European, including coverage for Hispanic, non-Hispanic White, and non-Hispanic Black
- Imputation-aware design—enhanced imputation coverage and accuracy
- Key disease-related variants—Alzheimer’s disease, cancer, cardiovascular and cardiometabolic diseases, diabetes, neurological disorders, SARS-CoV-2, host response, and immune-related markers
- Blood group genotyping variants—comprehensive blood module for the detection of a wide range of extended and rare blood groups, tissue (HLA) types, and platelet (HPA) antigen types, as well as hemoglobinopathy carrier variants that can enhance population research or epidemiology studies
- HLA typing—11 major histocompatibility complex (MHC) Class I and Class II loci
- CNV analysis—fixed regions and copy number discovery
- Disease, pharmacogenomic, and pathogenic design—from broadly referenced public databases, such as ACMG 73, ClinVar, the Clinical Pharmacogenetics Implementation Consortium (CPIC™) guidelines, the Pharmacogenomics Knowledge Base (PharmGKB™ resource), the NHGRI-EBI GWAS catalog, and the absorption, distribution, metabolism, and excretion (ADME) database
Additionally, the Axiom PangenomiX Plus Array provides:
- Over 100 additional markers associated with important haplotypes in genes, including CYP2D6, CYP2A6, CYP2B6, CYP2C19, CYP1A2, CYP2C8, and SULT1A1
- Markers in pseudogenes and with high sequence homology
- Reports on 113 genes, a subset with star alleles and phenotype/metabolizer status
Table 1: Axiom PangenomiX and Axiom PangenomiX Plus arrays disease-specific risk variants
| Category | Number of markers |
| Cancer | >13,000 |
| Mental, behavioral, neurological, and neurodevelopmental | >4,300 |
| Cardiovascular disease | >8,500 |
| Diabetes | >1,500 |
| Musculoskeletal disease | >5,900 |
| Inherited eye disease | >3,700 |
| Autoimmune and inflammatory disease | >1,150 |
| Loss of function, autosomal inheritance | >3,600 |
| Respiratory disorder | >500 |
Pharmacogenomics coverage: Axiom PangenomiX and Axiom PangenomiX Plus arrays
The Axiom PangenomiX and Axiom PangenomiX Plus arrays include over 5,000 variants in 1,100 genes of known PGx relevance. This evidence-based content allows researchers to gain valuable insight into an individual’s ability to process drugs based upon high, moderate, and preliminary scientific evidence.
The PGx content module includes:
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 CPIC guidelines
