The background of star allele analysis
Genetic variants in drug metabolism enzyme and transporter genes that are identifiable as pharmacogenomics markers are described by utilizing the star allele nomenclature for interpretation purpose. Star alleles are haplotype patterns at the gene level and are usually associated with protein activity levels. A haplotype can have genetic variants including single nucleotide polymorphisms (SNPs), Insertion/Deletion (InDels), and copy number variants (CNVs). Knowing the combination of variants within a given haplotype, together with the diploid content in an individual, is extremely important for studying drug metabolism, drug response and adverse drug reactions.
Star allele analysis by WES/WGS in Novogene
Novogene is a leading provider of genomic services and solutions, such as cutting-edge NGS and bioinformatics expertise. Novogene, using comprehensive human Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), provides a high-quality, affordable, and convenient solution to support large-scale clinical trials and pharmaceutical drug development projects, especially customized star allele analysis for research that focusing on pharmacogenomic studies.
Novogene utilizes CLIA-grade WES and research-grade WGS for data generation and germline genotyping of ADME genes (absorption, distribution, metabolism, and excretion) in gDNA samples to support customized analysis requirements. Specific pipelines are to be developed and validated for phased as well as non-phased haplotype calling, which are subsequently applied in WES/WGS data analysis for star allele calling.