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ESHG14 Poster: Mapping SNP Genotype and CNV Data Patterns to Pharmacogenomic Allele Nomenclature

768 views · Published 1 June 2014 · 1:43 · Indexed 4 November 2026

Channel: Thermo Fisher Scientific · 2014 · Science & Technology

Download Toinette's poster: http://www.slideshare.net/Life-Technologies-Corp/eshg14-poster-mapping-snp-genotype-and-cnv-data-patterns

Download all Thermo Fisher Scientific posters from ESHG14: http://ioncommunity.lifetechnologies.com/community/behindthebench/blog/2014/06/01/eshg14-download-our-posters-here-save-on-travel-expense

Pharmacogenomic (PGx) studies require genetic testing of individuals for multiple variants in drug metabolism enzyme and transporter genes. For phenotype interpretation purposes, genotyping results must be translated to star (*) allele nomenclature. Star alleles are gene level haplotype patterns that are associated with protein activity levels. Genetic variants within a haplotype can include single nucleotide polymorphisms (SNPs), Insertion/Deletions (InDels), and copy number variants (CNVs). Knowing the combination of variants within a given haplotype, and the diploid content in an individual, is of key importance for studying drug metabolism, drug response and adverse drug reactions. To facilitate the translation of results for individuals genotyped in studies using TaqMan SNP and Drug Metabolism Genotyping Assays and TaqMan Copy Number Assays, we developed a web-based flexible software tool called AlleleTyper. This software uses genetic pattern information in user-defined translation tables to map sample genotyping data to star allele or other nomenclature.

ESHG14 Poster: Mapping SNP Genotype and CNV Data Patterns to Pharmacogenomic Allele Nomenclature

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