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.
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
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy