Thermo Fisher Scientific supports pharmacogenomics research and population-scale disease studies

Comprehensive genomic coverage on a high-throughput microarray delivers multi-disease and pharmacogenomic research analysis

10 Jan 2024
Will Thompson
Editorial Assistant

Product news

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Thermo Fisher Scientific has recently launched the new Axiom™ PangenomiX Array, offering optimal genetic coverage for population-scale disease studies and pharmacogenomic research.

The Axiom PangenomiX Array combines four assays in one test: SNP genotyping, whole genome copy number variant detection, fixed copy number discovery, and blood and HLA typing. The high-throughput array is designed to advance disease risk and detection research, population-scale disease research programs, ancestry and wellness testing, drug efficacy testing, and drug development research.

The Axiom PangenomiX Array can scan the whole genome from as little as 100 ng genomic DNA. It can enable target single nucleotide polymorphism (SNP) identification, copy number variant analysis, human leukocyte antigen (HLA) typing and more in a single, cost-effective assay with ready-to-use data analysis. It also offers CNV analysis for fixed genomic regions and de novo copy number discovery to detect copy number changes across the whole genome.

Inclusive of clinically relevant pharmacogenomic markers and pathogenic variants, the Array offers researchers enhanced whole-genome imputation and a high level of diversity for testing different ethnicities to keep pace with the growing understanding of the genome. The Array has already been used to analyze nearly half a million ethnically diverse samples at a predominant biobank in the US to advance more inclusive research studies related to the prevention, diagnosis and treatment of disease.

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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.Assay AssemblyAssay Assembly is technique used in drug discovery to develop assays to test the cytotoxicity, genotoxicity, or other activities of a compound on a cell. Assay assembly requires chip assembly, a delivery system and a detection and analysis method. Beneficial features of assay kits or automated systems include high-throughput, high speed and sensitivity and low signal to noise ratio.MetagenomicsGenotyping