Our Science
Selected Publications
Our staff, advisors and standards committee members are actively involved in publishing high-impact peer reviewed journal articles that continue to shape and direct precision medicine and the clinical genetics and genomics industry. Below are selected publications from our team of industry leaders.
Next-generation Sequencing Bioinformatics: Guidance between the Sequencing and Sign out
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint recommendation of the Association for Molecular Pathology and the College of American Pathologists
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories
Design and Reporting Considerations for Genetic Screening Tests
Pitfalls in molecular diagnostics
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy
(In Press)