Genetic regulatory variation in populations informs transcriptome analysis in rare disease
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Title
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Authors
Keywords
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Journal
SCIENCE
Volume 366, Issue 6463, Pages 351-356
Publisher
American Association for the Advancement of Science (AAAS)
Online
2019-10-11
DOI
10.1126/science.aay0256
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Note: Only part of the references are listed.- Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
- (2019) Hernan D. Gonorazky et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2018) Denise Anderson et al. npj Genomic Medicine
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- (2018) Lauge Farnaes et al. npj Genomic Medicine
- Evidence for Weak Selective Constraint on Human Gene Expression
- (2018) Emily C. Glassberg et al. GENETICS
- A map of constrained coding regions in the human genome
- (2018) James M. Havrilla et al. NATURE GENETICS
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Quantifying the regulatory effect size ofcis-acting genetic variation using allelic fold change
- (2017) Pejman Mohammadi et al. GENOME RESEARCH
- The impact of rare variation on gene expression across tissues
- (2017) Xin Li et al. NATURE
- Genetic effects on gene expression across human tissues
- (2017) François Aguet et al. NATURE
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Genetic diagnosis of Mendelian disorders via RNA sequencing
- (2017) Laura S. Kremer et al. Nature Communications
- GeneHancer: genome-wide integration of enhancers and target genes in GeneCards
- (2017) Simon Fishilevich et al. Database-The Journal of Biological Databases and Curation
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Integrative approaches for large-scale transcriptome-wide association studies
- (2016) Alexander Gusev et al. NATURE GENETICS
- Rare variant phasing and haplotypic expression from RNA sequencing with phASER
- (2016) Stephane E. Castel et al. Nature Communications
- Loss of RNA expression and allele-specific expression associated with congenital heart disease
- (2016) David M. McKean et al. Nature Communications
- Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues
- (2016) Heather E. Wheeler et al. PLoS Genetics
- The landscape of genomic imprinting across diverse adult human tissues
- (2015) Yael Baran et al. GENOME RESEARCH
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- A gene-based association method for mapping traits using reference transcriptome data
- (2015) Eric R Gamazon et al. NATURE GENETICS
- WASP: allele-specific software for robust molecular quantitative trait locus discovery
- (2015) Bryce van de Geijn et al. NATURE METHODS
- A copy number variation map of the human genome
- (2015) Mehdi Zarrei et al. NATURE REVIEWS GENETICS
- The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
- (2015) Jean-Claude Kaplan et al. NEUROMUSCULAR DISORDERS
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity
- (2015) Slavé Petrovski et al. PLoS Genetics
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
- (2014) Alfonso Buil et al. NATURE GENETICS
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- (2013) John Lonsdale et al. NATURE GENETICS
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals
- (2011) Alkes L. Price et al. PLoS Genetics
- Differential expression analysis for sequence count data
- (2010) Simon Anders et al. GENOME BIOLOGY
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