Annotation of functional variation in personal genomes using RegulomeDB (Q29614867)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22955989%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Annotation of functional variation in personal genomes using RegulomeDB (English)

2 references

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30 April 2017

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12 February 2020

1

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12 February 2020

Jakub Karczewski

7

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12 February 2020

Konrad J. Karczewski

8

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12 February 2020

J. Michael Cherry

12

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12 February 2020

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Michael Snyder

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12 February 2020

author name string

Eurie L Hong

2

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12 February 2020

Manoj Hariharan

3

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12 February 2020

Yong Cheng

4

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12 February 2020

Marc A Schaub

5

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12 February 2020

Maya Kasowski

6

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12 February 2020

Julie Park

9

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12 February 2020

Benjamin C Hitz

10

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12 February 2020

Shuai Weng

11

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12 February 2020

language of work or name

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30 April 2017

publication date

1 September 2012

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12 February 2020

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30 April 2017

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12 February 2020

volume

22

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30 April 2017

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12 February 2020

page(s)

1790-1797

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12 February 2020

issue

9

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30 April 2017

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GENCODE: the reference human genome annotation for The ENCODE Project

12 February 2020

cites work

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An integrated encyclopedia of DNA elements in the human genome

30 April 2017

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Personal omics profiling reveals dynamic molecular and medical phenotypes

30 April 2017

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HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

30 April 2017

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Genome-wide profiling of H3K56 acetylation and transcription factor binding sites in human adipocytes

30 April 2017

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Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages

30 April 2017

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Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data

30 April 2017

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High-resolution genome-wide in vivo footprinting of diverse transcription factors in human cells

30 April 2017

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A map of human genome variation from population-scale sequencing

30 April 2017

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Discovery and characterization of chromatin states for systematic annotation of the human genome

30 April 2017

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Genetics and beyond--the transcriptome of human monocytes and disease susceptibility

30 April 2017

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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

30 April 2017

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A method and server for predicting damaging missense mutations

30 April 2017

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Understanding mechanisms underlying human gene expression variation with RNA sequencing

30 April 2017

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Transcriptome genetics using second generation sequencing in a Caucasian population

30 April 2017

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

30 April 2017

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Finding the missing heritability of complex diseases

30 April 2017

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Common regulatory variation impacts gene expression in a cell type-dependent manner

30 April 2017

1 reference

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

30 April 2017

1 reference

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Diversity and complexity in DNA recognition by transcription factors

30 April 2017

1 reference

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

30 April 2017

1 reference

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Genome-wide promoter analysis of the SOX4 transcriptional network in prostate cancer cells

30 April 2017

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UniPROBE: an online database of protein binding microarray data on protein-DNA interactions

30 April 2017

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Model-based analysis of ChIP-Seq (MACS)

30 April 2017

1 reference

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Mapping the genetic architecture of gene expression in human liver

30 April 2017

1 reference

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JASPAR, the open access database of transcription factor-binding profiles: new content and tools in the 2008 update

30 April 2017

1 reference

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A second generation human haplotype map of over 3.1 million SNPs

30 April 2017

1 reference

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Population genomics of human gene expression

30 April 2017

1 reference

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VISTA Enhancer Browser--a database of tissue-specific human enhancers

30 April 2017

1 reference

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Compact, universal DNA microarrays to comprehensively determine transcription-factor binding site specificities

30 April 2017

1 reference

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TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes

30 April 2017

1 reference

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A haplotype map of the human genome

30 April 2017

1 reference

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Linking disease associations with regulatory information in the human genome

30 April 2017

1 reference

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

3 June 2018

1 reference

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Comprehensive genome-wide protein-DNA interactions detected at single-nucleotide resolution

3 June 2018

1 reference

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Cooperative transcription factor associations discovered using regulatory variation

3 June 2018

1 reference

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AlleleSeq: analysis of allele-specific expression and binding in a network framework

3 June 2018

1 reference

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Regulation of nucleosome landscape and transcription factor targeting at tissue-specific enhancers by BRG1

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Densely interconnected transcriptional circuits control cell states in human hematopoiesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

GABP controls a critical transcription regulatory module that is essential for maintenance and differentiation of hematopoietic stem/progenitor cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Differentiation-specific histone modifications reveal dynamic chromatin interactions and partners for the intestinal transcription factor CDX2

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Genome-wide analysis of ETS-family DNA-binding in vitro and in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Multiplexed massively parallel SELEX for characterization of human transcription factor binding specificities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Variation in transcription factor binding among humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

DNA specificity determinants associate with distinct transcription factor functions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Design and analysis of ChIP-seq experiments for DNA-binding proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Inhibition of calpains improves memory and synaptic transmission in a mouse model of Alzheimer disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Variation in homeodomain DNA binding revealed by high-resolution analysis of sequence preferences

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

Efficient and accurate P-value computation for Position Weight Matrices

3 June 2018

1 reference

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A survey of genetic human cortical gene expression

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431494

26 November 2018

Identifiers

DOI

10.1101/GR.137323.112

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22955989

30 April 2017

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12 February 2020

1 reference

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3 references

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22955989%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

3 references

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30 April 2017

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