(Q38774701)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

RNA splicing is a primary link between genetic variation and disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Anil Raj

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jonathan K. Pritchard

8

object named as

Jonathan K Pritchard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Bryce van de Geijn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

David A Knowles

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Allegra A Petti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

David Golan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Yoav Gilad

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

language of work or name

English

0 references

publication date

28 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

issue

6285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

600-604

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

Partitioning heritability by functional annotation using genome-wide association summary statistics

3 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Integrative analysis of 111 reference human epigenomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Genomic variation. Impact of regulatory variation from RNA to protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Joint analysis of functional genomic data and genome-wide association studies of 18 human traits

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Transcriptome and genome sequencing uncovers functional variation in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

A statistical framework for joint eQTL analysis in multiple tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

COMT, neuropsychological function and brain structure in schizophrenia: a systematic review and neurobiological interpretation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

DNase I sensitivity QTLs are a major determinant of human expression variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

CTCF-promoted RNA polymerase II pausing links DNA methylation to splicing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Variation in transcription factor binding among humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Understanding mechanisms underlying human gene expression variation with RNA sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Identification of genetic variants that affect histone modifications in human cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Common polymorphic transcript variation in human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Alternative splicing in disease and therapy

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5182069

Metabolic labeling of RNA uncovers principles of RNA production and degradation dynamics in mammalian cells

31 August 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

STAR: ultrafast universal RNA-seq aligner

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

WASP: allele-specific software for robust molecular quantitative trait locus discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

ChromHMM: automating chromatin-state discovery and characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Noncoding origins of anthropoid traits and a new null model of transposon functionalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Dynamic analyses of alternative polyadenylation from RNA-seq reveal a 3'-UTR landscape across seven tumour types.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Genetics and regulatory impact of alternative polyadenylation in human B-lymphoblastoid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Promoter-like epigenetic signatures in exons displaying cell type-specific splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Biological insights from 108 schizophrenia-associated genetic loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Defining the role of common variation in the genomic and biological architecture of adult human height

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Genetic studies of body mass index yield new insights for obesity biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Integrating functional data to prioritize causal variants in statistical fine-mapping studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Heritability of alternative splicing in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD9417

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27126046

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.AAD9417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126046%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

PubMed publication ID

27126046

1 reference