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Title
Pathogenic variants that alter protein code often disrupt splicing
Authors
Keywords
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Journal
NATURE GENETICS
Volume 49, Issue 6, Pages 848-855
Publisher
Springer Nature
Online
2017-04-17
DOI
10.1038/ng.3837
References
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Related references
Note: Only part of the references are listed.- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences
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- SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
- (2015) Mohammad Alinoor Rahman et al. Scientific Reports
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
- (2014) Matthew Mort et al. GENOME BIOLOGY
- A compendium of RNA-binding motifs for decoding gene regulation
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- Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
- (2012) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing
- (2012) K. H. Lim et al. BIOINFORMATICS
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo
- (2012) Allison J Taggart et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules
- (2012) Yang Wang et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition
- (2012) Maayan Amit et al. Cell Reports
- ViennaRNA Package 2.0
- (2011) Ronny Lorenz et al. Algorithms for Molecular Biology
- Loss of exon identity is a common mechanism of human inherited disease
- (2011) T. Sterne-Weiler et al. GENOME RESEARCH
- Quantitative evaluation of all hexamers as exonic splicing elements
- (2011) Shengdong Ke et al. GENOME RESEARCH
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
- (2011) K. H. Lim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Characterising and Predicting Haploinsufficiency in the Human Genome
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- Positive selection acting on splicing motifs reflects compensatory evolution
- (2008) S. Ke et al. GENOME RESEARCH
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