[Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 1-10, 2022 Jan 10.
Article
em Zh
| MEDLINE
| ID: mdl-34964957
ABSTRACT
Copy number variants (CNVs) are common causes of human genetic diseases. CNVs detection has become a routine component of genetic testing, especially for pediatric neurodevelopmental disorders, multiple congenital abnormalities, prenatal evaluation of fetuses with structural anomalies detected by ultrasound. Although the technologies for CNVs detection are continuously improving, the interpretation is still challenging, with significant discordance across different laboratories. In 2020, the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) developed a guideline for the interpreting and reporting of constitutional copy number variants, which introduced a quantitative, evidence-based scoring framework. Here, we detailed the key points of interpreting the copy number gain based on the guideline, used six examples of different categories to illuminate the scoring process and principles. We encourage a professional understanding and application of this guideline for the detected copy number gains in China in order to further improve the clinical evaluation accuracy and consistency across different laboratories.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variações do Número de Cópias de DNA
/
Genética Médica
País/Região como assunto:
America do norte
Idioma:
Zh
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China