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This array combines whole genome imputation with direct genotyping of important pathogenic ACMG and ClinVar variants to bring you an exceptional level of accuracy and coverage across ancestral populations.
Key Features of the Axiom PangenomiX Array:
• Global population coverage—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
• Disease, pharmacogenomic, and pathogenic study—from broadly referenced public databases, such as ACMG 73, ClinVar, CPIC, PharmGKB, NHGRI-EBI GWAS catalog, and Pharma ADME
• Key variants of interest for disease-related variants—Alzheimer’s disease, cancer, cardiovascular and cardiometabolic diseases, diabetes, neurological disorders, SARS-CoV-2, host response, and immunerelated markers
• Blood-phenotyping variants—blood typing of common and rare blood groups, bleeding disorders, and blood conditions, such as sickle cell anemia
• HLA typing—11 major histocompatibility complex (MHC) Class I and Class II loci
• CNV analysis—fixed regions and copy number discovery