Elaine Lyon
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View article: The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy Open
Clinical genetic variant classification science is a growing subspecialty of clinical genetics and genomics. The field's continued improvement is essential for the success of precision medicine in both germline (hereditary) and somatic (on…
View article: ACMG clinical laboratory standards for next-generation sequencing
ACMG clinical laboratory standards for next-generation sequencing Open
Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several order…
View article: Characterizing Genetic Variants for Clinical Action
Characterizing Genetic Variants for Clinical Action Open
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatm…
View article: Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: A GeT-RM and Association for Molecular Pathology Collaborative Project
Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: A GeT-RM and Association for Molecular Pathology Collaborative Project Open
Pharmacogenetic testing is becoming more common; however, very few quality control and other reference materials that cover alleles commonly included in such assays are currently available. To address these needs, the Centers for Disease C…
View article: Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing
Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing Open
Well-characterized reference materials (RMs) are integral in maintaining clinical laboratory quality assurance for genetic testing. These RMs can be used for quality control, monitoring of test performance, test validation, and proficiency…
View article: Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms
Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms Open
Purpose Clinical genome sequencing (cGS) followed by orthogonal confirmatory testing is standard practice. While orthogonal testing significantly improves specificity it also results in increased turn-around-time and cost of testing. The p…
View article: Clinical Diagnosis through Whole-Genome Sequencing
Clinical Diagnosis through Whole-Genome Sequencing Open
A 10-month-old Caucasian male infant was referred to the genetics clinic for tetralogy of Fallot and macrothrombocytopenia.He also displayed symmetric growth restriction with microcephaly, developmental delay, cryptorchidism, and facial dy…
View article: Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene Open
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot develo…
View article: Issue Information
Issue Information Open
953 (US), US$993 (Rest of World), €643 (Europe), £508 (UK).Prices are exclusive of tax.Asia-Pacific GST, Canadian GST/HST, and European VAT will be applied at the appropriate rates.For more information on
View article: Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine
Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine Open
Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disorder that causes severe damage to the lungs and the digestive system. In Palestine, mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CF…