标题
Effect of predicted protein-truncating genetic variants on the human transcriptome
作者
关键词
-
出版物
SCIENCE
Volume 348, Issue 6235, Pages 666-669
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2015-05-08
DOI
10.1126/science.1261877
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Assessing allele-specific expression across multiple tissues from RNA-seq read data
- (2015) Matti Pirinen et al. BIOINFORMATICS
- Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals
- (2014) A. Casadio et al. EMBO REPORTS
- A polygenic burden of rare disruptive mutations in schizophrenia
- (2014) Shaun M. Purcell et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
- (2014) Jason Flannick et al. NATURE GENETICS
- The human splicing code reveals new insights into the genetic determinants of disease
- (2014) H. Y. Xiong et al. SCIENCE
- Choice of transcripts and software has a large effect on variant annotation
- (2014) Davis J McCarthy et al. Genome Medicine
- Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues
- (2014) Kimberly R. Kukurba et al. PLoS Genetics
- Sources of bias in measures of allele-specific expression derived from RNA-seq data aligned to a single reference genome
- (2013) Kraig R Stevenson et al. BMC GENOMICS
- The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
- (2013) S. B. Montgomery et al. GENOME RESEARCH
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- Transcriptome and genome sequencing uncovers functional variation in humans
- (2013) Tuuli Lappalainen et al. NATURE
- Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
- (2013) Peter A C 't Hoen et al. NATURE BIOTECHNOLOGY
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- The GEM mapper: fast, accurate and versatile alignment by filtration
- (2012) Santiago Marco-Sola et al. NATURE METHODS
- Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses
- (2012) Oliver Stegle et al. Nature Protocols
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- pROC: an open-source package for R and S+ to analyze and compare ROC curves
- (2011) Xavier Robin et al. BMC BIOINFORMATICS
- Copy-Number Variation: The Balance between Gene Dosage and Expression in Drosophila melanogaster
- (2011) Jun Zhou et al. Genome Biology and Evolution
- Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions
- (2011) A. Schlattl et al. GENOME RESEARCH
- A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq data
- (2011) D. A. Skelly et al. GENOME RESEARCH
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Genome-Wide Association between Branch Point Properties and Alternative Splicing
- (2010) André Corvelo et al. PLoS Computational Biology
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- TopHat: discovering splice junctions with RNA-Seq
- (2009) Cole Trapnell et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Widespread Transcriptional Autosomal Dosage Compensation in Drosophila Correlates with Gene Expression Level
- (2009) Ashley A. McAnally et al. Genome Biology and Evolution
- Copy number variants, diseases and gene expression
- (2009) C. N. Henrichsen et al. HUMAN MOLECULAR GENETICS
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Segmental copy number variation shapes tissue transcriptomes
- (2009) Charlotte N Henrichsen et al. NATURE GENETICS
- A robust statistical method for case-control association testing with copy number variation
- (2008) Chris Barnes et al. NATURE GENETICS
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