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)
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
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)
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-11-06
DOI
10.1038/s41436-019-0686-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
- (2018) Sean V Tavtigian et al. GENETICS IN MEDICINE
- Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
- (2018) Lynn W Bush et al. GENETICS IN MEDICINE
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Committee Opinion No. 581
- (2016) OBSTETRICS AND GYNECOLOGY
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Incidental copy-number variants identified by routine genome testing in a clinical population
- (2012) Philip M. Boone et al. GENETICS IN MEDICINE
- Towards an evidence-based process for the clinical interpretation of copy number variation
- (2011) ER Riggs et al. CLINICAL GENETICS
- College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis
- (2011) Arthur R. Brothman et al. GENETICS IN MEDICINE
- American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
- (2010) Melanie Manning et al. GENETICS IN MEDICINE
- Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
- (2009) Karen D Tsuchiya et al. GENETICS IN MEDICINE
- Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay
- (2008) Margaret P. Adam et al. JOURNAL OF PEDIATRICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now