Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
出版年份 2013 全文链接
标题
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
作者
关键词
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出版物
PLoS One
Volume 8, Issue 11, Pages e78496
出版商
Public Library of Science (PLoS)
发表日期
2013-11-14
DOI
10.1371/journal.pone.0078496
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- (2012) Oliver Semler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Health Services Utilization and Cost of Retinitis Pigmentosa
- (2012) Kevin D. Frick et al. ARCHIVES OF OPHTHALMOLOGY
- Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
- (2012) Morag E Shanks et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
- (2012) T. R. Webb et al. HUMAN MOLECULAR GENETICS
- Next-generation genetic testing for retinitis pigmentosa
- (2012) Kornelia Neveling et al. HUMAN MUTATION
- A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
- (2012) James O'Sullivan et al. JOURNAL OF MEDICAL GENETICS
- The UCSC Genome Browser database: extensions and updates 2013
- (2012) Laurence R. Meyer et al. NUCLEIC ACIDS RESEARCH
- Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
- (2012) Isabelle Audo et al. Orphanet Journal of Rare Diseases
- Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population
- (2012) Katsuhiro Hosono et al. PLoS One
- Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
- (2012) Koji M. Nishiguchi et al. PLoS One
- dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
- (2011) Xiaoming Liu et al. HUMAN MUTATION
- Genomics and the Eye
- (2011) Val C. Sheffield et al. NEW ENGLAND JOURNAL OF MEDICINE
- NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy
- (2011) K. D. Pruitt et al. NUCLEIC ACIDS RESEARCH
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
- (2010) Anneke I. den Hollander et al. JOURNAL OF CLINICAL INVESTIGATION
- PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
- (2010) Inga Ebermann et al. JOURNAL OF CLINICAL INVESTIGATION
- AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
- (2010) Carrie M Louie et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
- (2010) Alan F. Wright et al. NATURE REVIEWS GENETICS
- Mutations in the EYS Gene Account for Approximately 5% of Autosomal Recessive Retinitis Pigmentosa and Cause a Fairly Homogeneous Phenotype
- (2010) Karin W. Littink et al. OPHTHALMOLOGY
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
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