Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing
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Title
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing
Authors
Keywords
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Journal
Biomed Research International
Volume 2016, Issue -, Pages 1-14
Publisher
Hindawi Limited
Online
2016-12-30
DOI
10.1155/2016/6341870
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- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
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- (2014) Mark B. Consugar et al. GENETICS IN MEDICINE
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- The human splicing code reveals new insights into the genetic determinants of disease
- (2014) H. Y. Xiong et al. SCIENCE
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- 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
- (2013) Tobias Eisenberger et al. PLoS One
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- (2012) Kornelia Neveling et al. HUMAN MUTATION
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- (2011) Vladimir M. Milenkovic et al. JOURNAL OF CELL SCIENCE
- Genomics and the Eye
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- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
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- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
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