Rare and common regulatory variation in population-scale sequenced human genomes

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Rare and common regulatory variation in population-scale sequenced human genomes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PGEN.1002144
P932PMC publication ID3141000
P698PubMed publication ID21811411
P5875ResearchGate publication ID51542388

P50authorStephen MontgomeryQ57623523
Tuuli LappalainenQ30347703
P2093author name stringEmmanouil T Dermitzakis
Maria Gutierrez-Arcelus
P2860cites workIdentification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectQ21061203
The diploid genome sequence of an individual humanQ21090194
GENCODE: producing a reference annotation for ENCODEQ21184138
The diploid genome sequence of an Asian individualQ21972851
Analysis of genetic inheritance in a family quartet by whole-genome sequencingQ22065898
Genetic diagnosis by whole exome capture and massively parallel DNA sequencingQ22066282
From gene expression to disease riskQ81174501
From expression QTLs to personalized transcriptomicsQ83567368
Complete Khoisan and Bantu genomes from southern AfricaQ22122197
The complete genome of an individual by massively parallel DNA sequencingQ22122226
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsQ24296941
Exome sequencing identifies the cause of a mendelian disorderQ24607742
Multiple common variants for celiac disease influencing immune gene expressionQ24608614
Targeted capture and massively parallel sequencing of 12 human exomesQ24615381
A map of human genome variation from population-scale sequencingQ24617794
Accurate whole human genome sequencing using reversible terminator chemistryQ24641887
Statistical significance for genomewide studiesQ24681264
Genomics: In search of rare human variantsQ28296883
In silico detection of sequence variations modifying transcriptional regulationQ28472006
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass indexQ29547208
Understanding mechanisms underlying human gene expression variation with RNA sequencingQ29614412
Transcriptome genetics using second generation sequencing in a Caucasian populationQ29614413
A genome-wide association study of global gene expressionQ29614592
Common regulatory variation impacts gene expression in a cell type-dependent mannerQ29614882
Population genomics of human gene expressionQ29614905
Detection of nonneutral substitution rates on mammalian phylogeniesQ30080028
A survey of genomic properties for the detection of regulatory polymorphismsQ33287187
High-resolution mapping of expression-QTLs yields insight into human gene regulationQ33375030
Modifier effects between regulatory and protein-coding variationQ33381636
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associationsQ33549716
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.Q34023677
Genetics of human gene expression: mapping DNA variants that influence gene expressionQ34339168
Genome-wide allele-specific analysis: insights into regulatory variationQ37766748
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue7
P304page(s)e1002144
P577publication date2011-07-21
P1433published inPLOS GeneticsQ1893441
P1476titleRare and common regulatory variation in population-scale sequenced human genomes
P478volume7

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cites work (P2860)
Q36559243A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood.
Q90025164A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
Q36815060A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals
Q28543078Aberrant gene expression in humans
Q37147054Aging Shapes the Population-Mean and -Dispersion of Gene Expression in Human Brains
Q33946297Analysis of stop-gain and frameshift variants in human innate immunity genes
Q33711909Applications of the 1000 Genomes Project resources
Q30918610Assessing allele-specific expression across multiple tissues from RNA-seq read data
Q37983703Cellular genomics for complex traits
Q30360356Computational neuroanatomy of speech production.
Q36371313Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity
Q38113565Detection and impact of rare regulatory variants in human disease
Q38207502Determining causality and consequence of expression quantitative trait loci
Q31138145Discovering Single Nucleotide Polymorphisms Regulating Human Gene Expression Using Allele Specific Expression from RNA-seq Data
Q35204952Epistatic selection between coding and regulatory variation in human evolution and disease
Q39329664Evaluating empirical bounds on complex disease genetic architecture
Q37708629Expression quantitative trait analyses to identify causal genetic variants for type 2 diabetes susceptibility
Q36386093Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales
Q34047556Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations
Q50466777Genetic variants regulating expression levels and isoform diversity during embryogenesis.
Q36232895Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
Q36622908Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines
Q31151066High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE.
Q46065137Human gene essentiality
Q34468556Identification of a large set of rare complete human knockouts
Q30640302Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis
Q36131690Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
Q36093881Impact of microRNA regulation on variation in human gene expression
Q30581981Integrating GWAS and expression data for functional characterization of disease-associated SNPs: an application to follicular lymphoma
Q22065599Integrative annotation of variants from 1092 humans: application to cancer genomics
Q47147592Local ancestry transitions modify snp-trait associations
Q38773403Mapping rare and common causal alleles for complex human diseases
Q37670805Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT).
Q34987014Natural genetic variation impacts expression levels of coding, non-coding, and antisense transcripts in fission yeast
Q38127158Next generation sequencing and rare genetic variants: from human population studies to medical genetics
Q33878483Non-Coding Loss-of-Function Variation in Human Genomes
Q30656581Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge
Q38844561Population- and individual-specific regulatory variation in Sardinia.
Q35824651Predictability Bounds of Electronic Health Records
Q35956042Quadruplex-single nucleotide polymorphisms (Quad-SNP) influence gene expression difference among individuals.
Q37424621Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing.
Q35839564Quantitative high-throughput screening for chemical toxicity in a population-based in vitro model
Q28602964RNA Sequencing and Analysis
Q35533255Rare and common variants: twenty arguments
Q47143371Rare non-coding variants are associated with plasma lipid traits in a founder population
Q46149500The impact of rare variation on gene expression across tissues
Q28728693The interplay of genes and adolescent development in substance use disorders: leveraging findings from GWAS meta-analyses to test developmental hypotheses about nicotine consumption
Q33354240The next generation of complex lung genetic studies
Q38364456The role of regulatory variation in complex traits and disease
Q35779348Tools and best practices for data processing in allelic expression analysis
Q34371227Transcriptome and genome sequencing uncovers functional variation in humans
Q35882608Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants
Q34046359Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture
Q34146799Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants
Q78823376Ultrarare variants drive substantial cis heritability of human gene expression
Q35683652When one and one gives more than two: challenges and opportunities of integrative omics
Q34607023Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population
Q38030853Whole-genome and whole-exome sequencing in neurological diseases.
Q35063173Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes
Q30731688ZODET: software for the identification, analysis and visualisation of outlier genes in microarray expression data

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