描述

The Axiom Precision Medicine Diversity Research Array (PMD Research Array) is a comprehensive imputation-aware genotyping resource designed to drive deeper scientific insights into complex disease susceptibility, pharmacogenomics (PGx), and genetic factors underlying wellness and lifestyle in diverse populations to advance population genomics studies. It offers >850,000 markers selected for high genomic coverage from the 1000Genomes Project Phase III. Additional gene variants were chosen from broadly referenced public databases, including ClinVar, NHGRI-GWAS catalog, CPIC, PharmaGKB, and PharmaADME.The PMD Research Array is ideal for bio-banking, longitudinal cohort studies in precision medicine initiatives, clinical and translational research, and clinical trials in drug discovery.This array kit includes the 1x96-format array plate, Axiom 2.0 Plus reagents, and Axiom GeneTitan Consumables Kit. The Axiom 2.0 Plus reagents include primers for the gene-specific amplification step which enables access to alleles with known relevance to drug metabolism. For PMD Research Array offered with Axiom 2.0 reagents, please see Cat. No. 951962.Highlights:• Clinically relevant variants with emphasis on variants in ACMG59 genes• Over 5,000 variants in over 1,100 genes of known PGx value including CPIC Level A variants• Accurate genotyping of highly predictive markers in genes including CYP2D6, CYP1A2, CYP2B6, CYP2A6, SULT1A1, CYP2C19, and CYP2C8 that are in highly homologous regions with known relevance to drug metabolism. The array offers haplotypes and diplotypes for PGx variants in translation tables and includes Star Allele Nomenclature as part of the standard deliverables.• Blood phenotyping variants for blood typing and bleeding disorders• Customizable—the array can be customized with up to 50,000 markers without affecting the imputation accuracy, or it can be fully customized as requiredCoverage:• Genome-wide association study (GWAS) imputation module with ~800,000 markers across all ancestral populations• Evidence-based markers for relevant variants including ClinVar variants for comprehensive coverage of ACMG59 genes• PGx variants per Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines and Pharmacogenomics Knowledge Base (PharmGKB), variants in Very Important Pharmacogenes (VIP), and PharmaADME core variants. The ADME category includes alleles with known relevance to drug metabolism.• Blood typing variants that can be used to genotype and identify rare blood donors, bleeding disorders, and blood conditions such as sickle cell• Disease-related variants (Alzheimer’s, cancer, cardiac, cardiometabolic, diabetes, neurological disorder, and other rare variants)• Immune-related markers (human leukocyte antigen, killer immunoglobulin-like receptors, autoimmune, and inflammatory)• Functional variants (loss of function, expression quantitative trait loci, nonsynonymous variants, lung phenotypes)• Ancestry, wellness, and traits-related variants—includes environment and lifestyle variants such as those associated with skin and eye pigmentation, caffeine consumption, cholesterol levels, weight and obesity; variants used for tracking (fingerprint and sample tracking, mitochondrial, Y chromosome)