Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing
Author:
Affiliation:
1. Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
Funder
National Key R&D Program of China
Publisher
Informa UK Limited
Subject
General Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/07853890.2023.2276824
Reference27 articles.
1. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
2. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
3. Committee Opinion No. 581
4. Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
5. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
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