人類精準醫療基因檢測研究

This chip analyzes more than 750,000 markers, and the chip points into the locations of common and rare diseases in clinical and disease studies related to the Southeast Asian population.
The sites are selected from a wide range of international public databases, including ClinVar, NHGRI-GWAS, CPIC, PharmaGKB and PharmaADME.

Research Features:
★Variation points of GWAS
★Evidence markers for potential clinical relevance (pharmacogenomics, ClinVar, ACMG, exclusive markers)
★Immune-related markers (human leukocyte antigen, killer immunoglobulin-like receptor, autoimmunity and inflammation)
★Functional variation (loss of function, expression of quantitative trait loci, non-synonymous variants, lung phenotype)
★Disease-related variant studies (Alzheimer’s disease, cardiometabolic disorders, neurological disorders, diabetes, cancer variants, heart-related variants, and other rare variants)
★Used to track related variations (fingerprint and sample tracking, mitochondria, Y chromosome)