Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
| Autor: | Athena M. Cherry, Hutton M. Kearney, Swaroop Aradhya, Erica F. Andersen, Gordana Raca, Sibel Kantarci, Erik C. Thorland, Deborah I. Ritter, Sarah T. South, Erin Rooney Riggs, Ankita Patel, Christa Lese Martin, Daniel E. Pineda-Alvarez |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
scoring metric medicine.medical_specialty education.field_of_study Population CNV Technical standard MEDLINE Genomics 030105 genetics & heredity Data science Genome Article 03 medical and health sciences 030104 developmental biology Resource (project management) classification medicine Medical genetics copy number variant Copy-number variation Psychology education Genetics (clinical) interpretation |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics |
| ISSN: | 1530-0366 1098-3600 |
| Popis: | Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been in widespread clinical use, tremendous strides have been made in understanding the effects of copy-number variants (CNVs) in both affected individuals and the general population. However, continued broad implementation of array and next-generation sequencing–based technologies will expand the types of CNVs encountered in the clinical setting, as well as our understanding of their impact on human health. To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the technology used to identify them, the American College of Medical Genetics and Genomics has developed the following professional standards in collaboration with the National Institutes of Health (NIH)–funded Clinical Genome Resource (ClinGen) project. This update introduces a quantitative, evidence-based scoring framework; encourages the implementation of the five-tier classification system widely used in sequence variant classification; and recommends “uncoupling” the evidence-based classification of a variant from its potential implications for a particular individual. These professional standards will guide the evaluation of constitutional CNVs and encourage consistency and transparency across clinical laboratories. |
| Databáze: | OpenAIRE |
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