Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing

Assessing sex assignment concordance with genotype and phenotype

OBJECTIVES To catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. DESIGN After obtaining IRB approval, a retrospective chart revi...

Genotype and phenotype of COVID-19: Their roles in pathogenesis

COVID-19 is a novel coronavirus with an outbreak of unusual viral pneumonia in Wuhan, China, and then pandemic. Based on its phylogenetic relationships and genomic structures the COVID-19 belongs to genera Betacoronavirus. Human Betacoronaviruses (SARS-CoV-2, SARS-CoV, and MERS-CoV) have many similarities, but also have differences in their genomic and phenotypic structure that can influence th...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Thiopurine S-methyltransferase and Pemphigus Vulgaris: A Phenotype-Genotype Study

Background & Objective:  Thiopurine drugs are considered as a treatment modality in various autoimmune disorders including pemphigus vulgaris (PV). These drugs are metabolized by an enzyme “Thiopurine S-methyl transferase” (TPMT). Various variants of this enzyme may have decreased activity lead...

Robust tests for testing the parameters of a normal population

This article aims to provide a simple robust method to test the parameters of a normal population by using the new diagnostic tool called the “Forward Search” (FS) method. The most commonly used procedures to test the mean and variance of a normal distribution are Student’s t test and Chi-square test, respectively. These tests suffer from the presence of outliers. We introduce the FS version of...