Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
出版年份 2019 全文链接
标题
Diagnostic gene sequencing panels: from design to report—a
technical standard of the American College of Medical Genetics and Genomics
(ACMG)
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-11-16
DOI
10.1038/s41436-019-0666-z
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing
- (2018) James T. Lu et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Evaluation of copy number variant detection from panel-based next-generation sequencing data
- (2018) Ruen Yao et al. Molecular Genetics & Genomic Medicine
- Validation of copy number variation analysis for next-generation sequencing diagnostics
- (2017) Jamie M Ellingford et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
- (2017) Erica D. Smith et al. HUMAN MUTATION
- Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel
- (2017) Jen Bevilacqua et al. JOURNAL OF GENETICS
- Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels
- (2017) Jennifer Kerkhof et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels
- (2017) Christopher J. Klein et al. MAYO CLINIC PROCEEDINGS
- Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation
- (2017) Shashikant Pujar et al. NUCLEIC ACIDS RESEARCH
- A review of craniofacial and dental findings of the RASopathies
- (2017) H. Cao et al. Orthodontics & Craniofacial Research
- Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
- (2016) Diana Mandelker et al. GENETICS IN MEDICINE
- Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies
- (2016) Won Kyoung Jhang et al. PEDIATRIC CARDIOLOGY
- Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
- (2015) Ahmed A. Alfares et al. GENETICS IN MEDICINE
- 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
- Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
- (2015) Yu Sun et al. HUMAN MUTATION
- Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
- (2014) Kyle Retterer et al. GENETICS IN MEDICINE
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- Genetics, Medicine, and the Plain People
- (2009) Kevin A. Strauss et al. Annual Review of Genomics and Human Genetics
- Prion mutation D178N with highly variable disease onset and phenotype
- (2009) M Synofzik et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More