Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
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Title
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
Authors
Keywords
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Journal
Nature Communications
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-08-08
DOI
10.1038/s41467-019-11526-w
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Note: Only part of the references are listed.- Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
- (2018) Ryan Tewhey et al. CELL
- Dynamic EBF1 occupancy directs sequential epigenetic and transcriptional events in B-cell programming
- (2018) Rui Li et al. GENES & DEVELOPMENT
- Disruption of the β1L Isoform of GABP Reverses Glioblastoma Replicative Immortality in a TERT Promoter Mutation-Dependent Manner
- (2018) Andrew Mancini et al. CANCER CELL
- A Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility
- (2018) Darren A. Cusanovich et al. CELL
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- The impact of rare variation on gene expression across tissues
- (2017) Xin Li et al. NATURE
- Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
- (2017) Yi-Fei Huang et al. NATURE GENETICS
- Chromatin-state discovery and genome annotation with ChromHMM
- (2017) Jason Ernst et al. Nature Protocols
- JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework
- (2017) Aziz Khan et al. NUCLEIC ACIDS RESEARCH
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
- (2016) Damian Smedley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
- (2016) Jacob C. Ulirsch et al. CELL
- A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- (2016) Fumitaka Inoue et al. GENOME RESEARCH
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A spectral approach integrating functional genomic annotations for coding and noncoding variants
- (2016) Iuliana Ionita-Laza et al. NATURE GENETICS
- COSMIC: somatic cancer genetics at high-resolution
- (2016) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications
- (2016) Tiantian Liu et al. Genes
- An integrative approach to predicting the functional effects of non-coding and coding sequence variation
- (2015) Hashem A. Shihab et al. BIOINFORMATICS
- Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation
- (2015) Dong-Sheng Huang et al. EUROPEAN JOURNAL OF CANCER
- TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas
- (2015) Umberto Nencha et al. JOURNAL OF NEURO-ONCOLOGY
- A method for calculating probabilities of fitness consequences for point mutations across the human genome
- (2015) Brad Gulko et al. NATURE GENETICS
- A method to predict the impact of regulatory variants from DNA sequence
- (2015) Dongwon Lee et al. NATURE GENETICS
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis
- (2015) Sabine Spiegl-Kreinecker et al. NEURO-ONCOLOGY
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer
- (2015) R. J. A. Bell et al. SCIENCE
- The origins, determinants, and consequences of human mutations
- (2015) J. Shendure et al. SCIENCE
- The Ensembl Regulatory Build
- (2015) Daniel R Zerbino et al. GENOME BIOLOGY
- TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations
- (2014) M Labussière et al. BRITISH JOURNAL OF CANCER
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Functional annotation of noncoding sequence variants
- (2014) Graham R S Ritchie et al. NATURE METHODS
- In pursuit of design principles of regulatory sequences
- (2014) Michal Levo et al. NATURE REVIEWS GENETICS
- Comprehensive Mutation Analysis of the TERT Promoter in Bladder Cancer and Detection of Mutations in Voided Urine
- (2013) Carolyn D. Hurst et al. EUROPEAN UROLOGY
- Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments
- (2013) P. Kheradpour et al. NUCLEIC ACIDS RESEARCH
- TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism
- (2013) P. S. Rachakonda et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
- (2013) P. J. Killela et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TERT Promoter Mutations in Familial and Sporadic Melanoma
- (2013) S. Horn et al. SCIENCE
- 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
- Massively parallel functional dissection of mammalian enhancers in vivo
- (2012) Rupali P Patwardhan et al. NATURE BIOTECHNOLOGY
- Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
- (2012) M. T. Maurano et al. SCIENCE
- A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
- (2011) H. Li BIOINFORMATICS
- Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution
- (2011) Khemanganee E. Liyanage et al. CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
- Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia
- (2011) Isabel De Castro-Orós et al. HUMAN MUTATION
- Discovery of active enhancers through bidirectional expression of short transcripts
- (2011) Michael F Melgar et al. GENOME BIOLOGY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Early B Cell Factor 1 Regulates B Cell Gene Networks by Activation, Repression, and Transcription- Independent Poising of Chromatin
- (2010) Thomas Treiber et al. IMMUNITY
- From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
- (2010) Kiran Musunuru et al. NATURE
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Parallel, tag-directed assembly of locally derived short sequence reads
- (2010) Joseph B Hiatt et al. NATURE METHODS
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer
- (2009) Verena Varadi et al. CANCER GENETICS AND CYTOGENETICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis
- (2009) Rupali P Patwardhan et al. NATURE BIOTECHNOLOGY
- Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database
- (2008) S. E. A. Leigh et al. ANNALS OF HUMAN GENETICS
- Ultraconservation identifies a small subset of extremely constrained developmental enhancers
- (2008) Axel Visel et al. NATURE GENETICS
- Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
- (2008) Sekar Kathiresan et al. NATURE GENETICS
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