(Q30656680)

21 September 2017

GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data (English)

1 reference

alternative mRNA splicing, via spliceosome

21 September 2017

0 references

1 reference

1 reference

1 reference

Zhi-xiang Lu

0 references

Keyan Zhao

1 reference

21 September 2017

Juw Won Park

series ordinal

1 reference

21 September 2017

Qing Zhou

series ordinal

1 reference

21 September 2017

Yi Xing

series ordinal

1 reference

21 September 2017

22 July 2013

1 reference

21 September 2017

1 reference

21 September 2017

1 reference

21 September 2017

1 reference

21 September 2017

R74

1 reference

describes a project that uses

21 September 2017

ImageQuant

object named as

ImageQuant

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

1 reference

Variants affecting exon skipping contribute to complex traits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Annotation of functional variation in personal genomes using RegulomeDB

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Linking disease associations with regulatory information in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Tissue-specific splicing of disordered segments that embed binding motifs rewires protein interaction networks

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Detecting differential usage of exons from RNA-seq data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Dissecting the regulatory architecture of gene expression QTLs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Post-GWAS functional characterization of susceptibility variants for chronic lymphocytic leukemia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Human metabolic individuality in biomedical and pharmaceutical research

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Sequencing technology does not eliminate biological variability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Improving RNA-Seq expression estimates by correcting for fragment bias

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Detection and removal of biases in the analysis of next-generation sequencing reads

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Context-dependent robustness to 5′ splice site polymorphisms in human populations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Analysis and design of RNA sequencing experiments for identifying isoform regulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Conservation of an RNA regulatory map between Drosophila and mammals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Hundreds of variants clustered in genomic loci and biological pathways affect human height

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Polymorphic Cis- and Trans-Regulation of Human Gene Expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

An ESRP-regulated splicing programme is abrogated during the epithelial-mesenchymal transition

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Modeling non-uniformity in short-read rates in RNA-Seq data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Biases in Illumina transcriptome sequencing caused by random hexamer priming

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Transcriptome genetics using second generation sequencing in a Caucasian population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Expansion of the eukaryotic proteome by alternative splicing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Fine-scale variation and genetic determinants of alternative splicing across individuals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Bayesian statistical methods for genetic association studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genome-wide association study of alcohol dependence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Validating, augmenting and refining genome-wide association signals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

TopHat: discovering splice junctions with RNA-Seq

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Tissue-specific genetic control of splicing: implications for the study of complex traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

A genome-wide investigation of SNPs and CNVs in schizophrenia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Common polymorphic transcript variation in human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

High-resolution mapping of expression-QTLs yields insight into human gene regulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Mapping the genetic architecture of gene expression in human liver

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Small-sample estimation of negative binomial dispersion, with applications to SAGE data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Splicing in disease: disruption of the splicing code and the decoding machinery

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Identification of common genetic variation that modulates alternative splicing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Pre-mRNA splicing and human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Identification and characterization of a leukocyte-specific component of the nuclear body

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

LYSP100-associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

Alternative isoform regulation in human tissue transcriptomes

28 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Integrating common and rare genetic variation in diverse human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Genome-wide analysis of transcript isoform variation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Understanding mechanisms underlying human gene expression variation with RNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Identification of allele-specific alternative mRNA processing via transcriptome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Tissue-specific alternative splicing remodels protein-protein interaction networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Functional study of the P32T ITPA variant associated with drug sensitivity in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Deciphering the splicing code

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Genetics of gene expression and its effect on disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FGB-2013-14-7-R74

Genetic variation of pre-mRNA alternative splicing in human populations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4054007

25 November 2018

Identifiers

DOI

10.1186/GB-2013-14-7-R74

1 reference

Dimensions Publication ID

21 September 2017

0 references

1 reference

21 September 2017

PubMed publication ID

23876401

1 reference