Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
Published 2011 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
Authors
Keywords
-
Journal
NATURE BIOTECHNOLOGY
Volume 29, Issue 6, Pages 512-520
Publisher
Springer Nature
Online
2011-05-09
DOI
10.1038/nbt.1852
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- 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
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
- (2010) Donald F Conrad et al. NATURE GENETICS
- Tackling the widespread and critical impact of batch effects in high-throughput data
- (2010) Jeffrey T. Leek et al. NATURE REVIEWS GENETICS
- Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
- (2010) Andrew E. Dellinger et al. NUCLEIC ACIDS RESEARCH
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- The pitfalls of platform comparison: DNA copy number array technologies assessed
- (2009) Christina Curtis et al. BMC GENOMICS
- Copy number variation at 1q21.1 associated with neuroblastoma
- (2009) Sharon J. Diskin et al. NATURE
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
- (2009) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
- (2009) Hajime Matsuzaki et al. GENOME BIOLOGY
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors
- (2008) LO Baumbusch et al. BMC GENOMICS
- Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
- (2008) Zhong-Fa Zhang et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Strong association of de novo copy number mutations with sporadic schizophrenia
- (2008) Bin Xu et al. NATURE GENETICS
- Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
- (2008) Steven A McCarroll et al. NATURE GENETICS
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
- (2008) Joshua M Korn et al. NATURE GENETICS
- Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
- (2008) A. Shlien et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Array-Based DNA Diagnostics: Let the Revolution Begin
- (2007) Arthur L. Beaudet et al. Annual Review of Medicine
Publish 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 MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started