Lista de obras - Colin A. Semple - Dominio Público Uruguay

A genome-wide screen in human embryonic stem cells reveals novel sites of allele-specific histone modification associated with known disease loci

artículo científico publicado en 2012

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

artículo científico publicado en 2011

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid

artículo científico publicado en 2014

BiForce Toolbox: powerful high-throughput computational analysis of gene-gene interactions in genome-wide association studies

artículo científico publicado en 2012

Breaking point: the genesis and impact of structural variation in tumours

Characterisation of the nascent polypeptide-associated complex in fission yeast

artículo científico publicado en 2007

Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

artículo científico publicado en 2012

Conservation and divergence in Toll-like receptor 4-regulated gene expression in primary human versus mouse macrophages

artículo científico publicado en 2012

Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli

scientific article published on 01 August 2018

Corrigendum of 'High throughput analysis of epistasis in genome-wide association studies with BiForce'

scholarly article published in Bioinformatics

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution

scholarly article published in Nature Genetics

DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

artículo científico publicado en 2018

Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells

artículo científico publicado en 2005

Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations

artículo científico publicado en 2006

Divergence of mammalian higher order chromatin structure is associated with developmental loci

artículo científico publicado en 2013

Functional annotation of human long noncoding RNAs via molecular phenotyping

artículo científico publicado en 2020

Genome-wide analysis of mammalian promoter architecture and evolution

artículo científico publicado en 2006

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

scientific article published on 30 March 2008

Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway

artículo científico

Heterotachy in mammalian promoter evolution

artículo científico publicado en 2006

High-throughput analysis of epistasis in genome-wide association studies with BiForce

artículo científico publicado en 2012

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

artículo científico publicado en 2015

Human β‐defensin 3 affects the activity of pro‐inflammatory pathways associated with MyD88 and TRIF ⬇️

artículo científico publicado el 6 de septiembre de 2011

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

scientific article published on 25 November 2019

Integrative modeling reveals the principles of multi-scale chromatin boundary formation in human nuclear organization

artículo científico publicado en 2015

Lsh regulates LTR retrotransposon repression independently of Dnmt3b function

artículo científico publicado en 2013

Modelling double strand break susceptibility to interrogate structural variation in cancer

Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome

artículo científico publicado en 2020

Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway?

scientific journal article

New ATPase regulators--p97 goes to the PUB.

artículo científico publicado en 2009

Opening sequence: computational genomics in the era of high-throughput sequencing

artículo científico publicado en 2011

Pervasive lesion segregation shapes cancer genome evolution

artículo científico publicado en 2020

Posttranscriptional regulation of miRNAs harboring conserved terminal loops.

artículo científico publicado en 2008

Properties of local interactions and their potential value in complementing genome-wide association studies

artículo científico publicado en 2013

Rapidly evolving human promoter regions.

artículo científico publicado en 2008

SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis.

artículo científico publicado en 2002

Sequence-level mechanisms of human epigenome evolution.

artículo científico publicado en 2014

Side effects: substantial non-neutral evolution flanking regulatory sites

artículo científico publicado en 2013

Structural Variants at the <i>BRCA1/2</i> Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma

artículo científico publicado en 2021

The changing of the guard: Molecular diversity and rapid evolution of beta-defensins

artículo científico publicado en 2006

The circadian dynamics of small nucleolar RNA in the mouse liver

artículo científico publicado en 2017

The genomic signature of trait-associated variants.

artículo científico publicado en 2013

The retroviral proteinase active site and the N-terminus of Ddi1 are required for repression of protein secretion

artículo científico publicado en 2011

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

artículo científico publicado en 2009

Thioredoxin Txnl1/TRP32 is a redox-active cofactor of the 26 S proteasome

artículo científico publicado en 2009

Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response

artículo científico publicado en 2015

Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis

artículo científico publicado en 2005

Ubxd1 is a novel co-factor of the human p97 ATPase

artículo científico publicado en 2008

When TADs go bad: chromatin structure and nuclear organisation in human disease

artículo científico publicado en 2017

Widespread signatures of recent selection linked to nucleosome positioning in the human lineage.

artículo científico publicado en 2011

Maintenance of inversion polymorphism in Drosophila melanogaster

tesis doctoral

Lista de obras de Colin A. Semple

A genome-wide screen in human embryonic stem cells reveals novel sites of allele-specific histone modification associated with known disease loci

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

A promoter-level mammalian expression atlas

Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid

BiForce Toolbox: powerful high-throughput computational analysis of gene-gene interactions in genome-wide association studies

Breaking point: the genesis and impact of structural variation in tumours

Characterisation of the nascent polypeptide-associated complex in fission yeast

Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Conservation and divergence in Toll-like receptor 4-regulated gene expression in primary human versus mouse macrophages

Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli

Corrigendum of 'High throughput analysis of epistasis in genome-wide association studies with BiForce'

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution

DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells

Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations

Divergence of mammalian higher order chromatin structure is associated with developmental loci

Functional annotation of human long noncoding RNAs via molecular phenotyping

Genome-wide analysis of mammalian promoter architecture and evolution

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway

Heterotachy in mammalian promoter evolution

High-throughput analysis of epistasis in genome-wide association studies with BiForce

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Human β‐defensin 3 affects the activity of pro‐inflammatory pathways associated with MyD88 and TRIF ⬇️

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

Integrative modeling reveals the principles of multi-scale chromatin boundary formation in human nuclear organization

Lsh regulates LTR retrotransposon repression independently of Dnmt3b function

Modelling double strand break susceptibility to interrogate structural variation in cancer

Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome

Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway?

New ATPase regulators--p97 goes to the PUB.

Opening sequence: computational genomics in the era of high-throughput sequencing

Pervasive lesion segregation shapes cancer genome evolution

Posttranscriptional regulation of miRNAs harboring conserved terminal loops.

Properties of local interactions and their potential value in complementing genome-wide association studies

Rapidly evolving human promoter regions.

SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis.

Sequence-level mechanisms of human epigenome evolution.

Side effects: substantial non-neutral evolution flanking regulatory sites

Structural Variants at the <i>BRCA1/2</i> Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma

The changing of the guard: Molecular diversity and rapid evolution of beta-defensins

The circadian dynamics of small nucleolar RNA in the mouse liver

The genomic signature of trait-associated variants.

The retroviral proteinase active site and the N-terminus of Ddi1 are required for repression of protein secretion

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

Thioredoxin Txnl1/TRP32 is a redox-active cofactor of the 26 S proteasome

Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response

Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis

Ubxd1 is a novel co-factor of the human p97 ATPase

When TADs go bad: chromatin structure and nuclear organisation in human disease

Widespread signatures of recent selection linked to nucleosome positioning in the human lineage.

Maintenance of inversion polymorphism in Drosophila melanogaster