Transcriptomic signatures across human tissues identify functional rare genetic variation
出版年份 2020 全文链接
标题
Transcriptomic signatures across human tissues identify functional rare genetic variation
作者
关键词
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出版物
SCIENCE
Volume 369, Issue 6509, Pages eaaz5900
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2020-09-11
DOI
10.1126/science.aaz5900
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
- (2020) Thorunn A. Olafsdottir et al. Nature Communications
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Microdeletion in a pseudogene identified in a patient with high anandamide concentrations and pain insensitivity
- (2019) Abdella M. Habib et al. BRITISH JOURNAL OF ANAESTHESIA
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- (2019) Laure Frésard et al. NATURE MEDICINE
- Ultrarare variants drive substantial cis heritability of human gene expression
- (2019) Ryan D. Hernandez et al. NATURE GENETICS
- Fusion transcripts: Unexploited vulnerabilities in cancer?
- (2019) Carla Neckles et al. Wiley Interdisciplinary Reviews-RNA
- Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
- (2018) Sidi Zhang et al. GENOME RESEARCH
- Paediatric genomics: diagnosing rare disease in children
- (2018) Caroline F. Wright et al. NATURE REVIEWS GENETICS
- The UK Biobank resource with deep phenotyping and genomic data
- (2018) Clare Bycroft et al. NATURE
- Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program
- (2018) Derek Klarin et al. NATURE GENETICS
- PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools
- (2018) Huaiyu Mi et al. NUCLEIC ACIDS RESEARCH
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- The Gene Ontology Resource: 20 years and still GOing strong
- (2018) NUCLEIC ACIDS RESEARCH
- Co-expression networks reveal the tissue-specific regulation of transcription and splicing
- (2017) Ashis Saha et al. GENOME RESEARCH
- The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology
- (2017) Eugene J. Gardner et al. GENOME RESEARCH
- The impact of rare variation on gene expression across tissues
- (2017) Xin Li et al. NATURE
- Population- and individual-specific regulatory variation in Sardinia
- (2017) Mauro Pala et al. NATURE GENETICS
- Annotation-free quantification of RNA splicing using LeafCutter
- (2017) Yang I. Li et al. NATURE GENETICS
- A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
- (2017) Dirk Smith et al. PLoS Genetics
- Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization
- (2017) Xiaoquan Wen et al. PLoS Genetics
- Rare coding variants pinpoint genes that control human hematological traits
- (2017) Abdou Mousas et al. PLoS Genetics
- EML proteins in microtubule regulation and human disease
- (2016) Andrew M. Fry et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
- (2016) Ryan Tewhey et al. CELL
- Million Veteran Program: A mega-biobank to study genetic influences on health and disease
- (2016) John Michael Gaziano et al. JOURNAL OF CLINICAL EPIDEMIOLOGY
- Regulation of disease-associated gene expression in the 3D genome
- (2016) Peter Hugo Lodewijk Krijger et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- RNA splicing is a primary link between genetic variation and disease
- (2016) Yang I. Li et al. SCIENCE
- Gene regulation at a distance: From remote enhancers to 3D regulatory ensembles
- (2016) François Spitz SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- ETS family protein GABP is a novel co-factor strongly associated with genomic YY1 binding sites in various cell lines
- (2015) Taijun Han et al. Genes & Genomics
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- Large multiallelic copy number variations in humans
- (2015) Robert E Handsaker et al. NATURE GENETICS
- Aberrant Gene Expression in Humans
- (2015) Yong Zeng et al. PLoS Genetics
- Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants
- (2014) Xin Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Impact of regulatory variation from RNA to protein
- (2014) A. Battle et al. SCIENCE
- A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness
- (2014) Jared O'Connell et al. PLoS Genetics
- Genomic View of Bipolar Disorder Revealed by Whole Genome Sequencing in a Genetic Isolate
- (2014) Benjamin Georgi et al. PLoS Genetics
- Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
- (2014) Claudia Giambartolomei et al. PLoS Genetics
- Decoding asthma: Translating genetic variation in IL33 and IL1RL1 into disease pathophysiology
- (2013) Néomi S. Grotenboer et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- RNA-SeQC: RNA-seq metrics for quality control and process optimization
- (2012) David S. DeLuca et al. BIOINFORMATICS
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses
- (2012) Oliver Stegle et al. Nature Protocols
- Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
- (2012) A. Keinan et al. SCIENCE
- FLASH: fast length adjustment of short reads to improve genome assemblies
- (2011) T. Magoc et al. BIOINFORMATICS
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes
- (2011) Stephen B. Montgomery et al. PLoS Genetics
- A streamlined protocol for emulsion polymerase chain reaction and subsequent purification
- (2010) Tatjana Schütze et al. ANALYTICAL BIOCHEMISTRY
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Enzymatic assembly of DNA molecules up to several hundred kilobases
- (2009) Daniel G Gibson et al. NATURE METHODS
- A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies
- (2009) Bryan N. Howie et al. PLoS Genetics
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