15 research outputs found
PCR detection of a TaqI polymorphism at the CCAATT box of the human tyrosinase (TYR) gene
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean
Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society
Molecular Technology and Informatics for Personalised Medicine and Healt
Oculocutaneous Albinism in the i6 Mutant of the Medaka Fish is Associated with a Deletion in the Tyrosinase Gene
Thermodynamic properties of magnesium phosphate (Mg3P2O8)—Correction of data in recent compilations
Identifying risk for language impairment in children from linguistically diverse low-income schools
Adaptation of fluorescent technique for genotyping with new microsatellite markers in common bean Adaptação da técnica de fluorescência para fins de genotipagem com novos marcadores microssatélite em feijoeiro
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Universal tail sequence-SSR applied to molecular characterization of tropical maize hybrids
Bioinformatic Mining of Type I Microsatellites from Expressed Sequence Tags of Channel Catfish (Ictalurus punctatus)
Pharmacogenetic Allele Nomenclature
This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems.
In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward