Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Authors
Keywords
-
Journal
NATURE GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-07-14
DOI
10.1038/s41588-018-0160-6
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Predicting gene expression in massively parallel reporter assays: A comparative study
- (2017) Anat Kreimer et al. HUMAN MUTATION
- 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
- Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
- (2016) Ryan Tewhey et al. CELL
- Dissecting the genetics of complex traits using summary association statistics
- (2016) Bogdan Pasaniuc et al. NATURE REVIEWS GENETICS
- The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
- (2016) Jacqueline MacArthur et al. NUCLEIC ACIDS RESEARCH
- Genetic variants in five novel loci includingCFBandCD40predispose to chronic hepatitis B
- (2015) De-Ke Jiang et al. HEPATOLOGY
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations
- (2015) Jimmy Z Liu et al. NATURE GENETICS
- Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
- (2015) James Bentham et al. NATURE GENETICS
- A gene-based association method for mapping traits using reference transcriptome data
- (2015) Eric R Gamazon et al. NATURE GENETICS
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- Tissue-based map of the human proteome
- (2015) M. Uhlen et al. SCIENCE
- A promoter-level mammalian expression atlas
- (2014) NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Genetic variability in the regulation of gene expression in ten regions of the human brain
- (2014) Adaikalavan Ramasamy et al. NATURE NEUROSCIENCE
- Beyond GWASs: Illuminating the Dark Road from Association to Function
- (2013) Stacey L. Edwards et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Genome-Wide Association Study for Venous Thromboembolism: The Extended Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
- (2013) Weihong Tang et al. GENETIC EPIDEMIOLOGY
- Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1
- (2013) Yohei Kirino et al. NATURE GENETICS
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- Systematic identification of trans eQTLs as putative drivers of known disease associations
- (2013) Harm-Jan Westra et al. NATURE GENETICS
- Highly Recurrent TERT Promoter Mutations in Human Melanoma
- (2013) F. W. Huang et al. SCIENCE
- Frequency of TERT promoter mutations in human cancers
- (2013) João Vinagre et al. Nature Communications
- Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene
- (2013) Mar Gonzàlez-Porta et al. GENOME BIOLOGY
- Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
- (2012) Luke Jostins et al. NATURE
- Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis
- (2012) Yi-Ching Lee et al. NATURE GENETICS
- Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles
- (2012) Benjamin P Fairfax et al. NATURE GENETICS
- The ENCODE project
- (2012) Natalie de Souza NATURE METHODS
- Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- (2011) Stephen Sawcer et al. NATURE
- A genome-wide association study identifies two new risk loci for Graves' disease
- (2011) NATURE GENETICS
- Genetics of Venous Thrombosis: Insights from a New Genome Wide Association Study
- (2011) Marine Germain et al. PLoS One
- Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases
- (2011) Vincent Plagnol et al. PLoS Genetics
- Understanding mechanisms underlying human gene expression variation with RNA sequencing
- (2010) Joseph K. Pickrell et al. NATURE
- The NIH Roadmap Epigenomics Mapping Consortium
- (2010) Bradley E Bernstein et al. NATURE BIOTECHNOLOGY
- Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
- (2010) Andre Franke et al. NATURE GENETICS
- Hnf1 (MODY3) Controls Tissue-Specific Transcriptional Programs and Exerts Opposed Effects on Cell Growth in Pancreatic Islets and Liver
- (2009) J.-M. Servitja et al. MOLECULAR AND CELLULAR BIOLOGY
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- Predicting expression patterns from regulatory sequence in Drosophila segmentation
- (2008) Eran Segal et al. NATURE
- Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
- (2008) Robert R Graham et al. NATURE GENETICS
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
- (2008) Jeffrey C Barrett et al. NATURE GENETICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started