Posts for Topic: Laboratory Genetics & Genomics
-
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
-
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
-
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (Archived)
-
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)