Evaluation of copy number variant detection from panel-based next-generation sequencing data
Published 2018 View Full Article
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Title
Evaluation of copy number variant detection from panel-based next-generation sequencing data
Authors
Keywords
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Journal
Molecular Genetics & Genomic Medicine
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-12-19
DOI
10.1002/mgg3.513
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Note: Only part of the references are listed.- Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
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- CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
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- Structural variation mutagenesis of the human genome: Impact on disease and evolution
- (2015) James R. Lupski ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
- Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
- (2015) Terry Vrijenhoek et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification of copy number variants from exome sequence data
- (2014) Pubudu Samarakoon et al. BMC GENOMICS
- DNA Sequencing versus Standard Prenatal Aneuploidy Screening
- (2014) Diana W. Bianchi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
- (2014) Brent L. Fogel et al. JAMA Neurology
- Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
- (2013) Joep de Ligt et al. HUMAN MUTATION
- Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
- (2013) K. H. Nicolaides et al. PRENATAL DIAGNOSIS
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Copy number variation detection and genotyping from exome sequence data
- (2012) N. Krumm et al. GENOME RESEARCH
- 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
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- Copy Number Variation in Human Health, Disease, and Evolution
- (2009) Feng Zhang et al. Annual Review of Genomics and Human Genetics
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
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