Lista de obras - James G. Prendergast - Dominio Público Uruguay

A cattle graph genome incorporating global breed diversity

artículo científico publicado en 2022

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

artículo científico publicado en 2017

Abundant pleiotropy in human complex diseases and traits.

artículo científico publicado en 2011

Age-related gene expression changes, and transcriptome wide association study of physical and cognitive aging traits, in the Lothian Birth Cohort 1936.

artículo científico publicado en 2017

Arginine to Glutamine Variant in Olfactomedin Like 3 () Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed

article

Chromatin structure and evolution in the human genome.

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

artículo científico publicado en 2019

Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait

scientific article published on 30 April 2019

Exome sequencing to detect rare variants associated with general cognitive ability: a pilot study.

artículo científico

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

artículo científico publicado en 2011

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 association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

artículo científico publicado en 2007

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

artículo científico

Germline susceptibility to colorectal cancer due to base-excision repair gene defects

artículo científico publicado en 2005

Graphia: A platform for the graph-based visualisation and analysis of high dimensional data

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

scientific article published on 25 November 2019

Linked Mutations at Adjacent Nucleotides Have Shaped Human Population Differentiation and Protein Evolution

artículo científico publicado en 2019

Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies

artículo científico publicado en 2013

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

artículo científico publicado en 2020

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

artículo científico publicado en 2008

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

artículo científico publicado en 2010

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

artículo científico publicado en 2011

Redistribution of H3K27me3 upon DNA hypomethylation results in de-repression of Polycomb target genes

artículo científico publicado en 2013

Reply to Webb et al

Sequence-level mechanisms of human epigenome evolution.

artículo científico publicado en 2014

Sequencing and analysis of an Irish human genome

artículo científico publicado en 2010

Sequencing illustrates the transcriptional response of Legionella pneumophila during infection and identifies seventy novel small non-coding RNAs

artículo científico publicado en 2011

Shared regulatory sites are abundant in the human genome and shed light on genome evolution and disease pleiotropy.

artículo científico publicado en 2017

Side effects: substantial non-neutral evolution flanking regulatory sites

artículo científico publicado en 2013

The host ubiquitin-dependent segregase VCP/p97 is required for the onset of human cytomegalovirus replication.

artículo científico publicado en 2017

Transcription forms and remodels supercoiling domains unfolding large-scale chromatin structures

artículo científico publicado en 2013

Using regulatory variants to detect gene-gene interactions identifies networks of genes linked to cell immortalisation

artículo científico publicado en 2020

Whole-Genome Sequence Data Suggest Environmental Adaptation of Ethiopian Sheep Populations

artículo científico publicado en 2021

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

artículo científico publicado en 2011

hapbin: An Efficient Program for Performing Haplotype-Based Scans for Positive Selection in Large Genomic Datasets.

artículo científico publicado en 2015

Lista de obras de James G. Prendergast

A cattle graph genome incorporating global breed diversity

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

A promoter-level mammalian expression atlas

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Abundant pleiotropy in human complex diseases and traits.

Age-related gene expression changes, and transcriptome wide association study of physical and cognitive aging traits, in the Lothian Birth Cohort 1936.

Arginine to Glutamine Variant in Olfactomedin Like 3 () Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed

Chromatin structure and evolution in the human genome.

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

Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait

Exome sequencing to detect rare variants associated with general cognitive ability: a pilot study.

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

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

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

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

Germline susceptibility to colorectal cancer due to base-excision repair gene defects

Graphia: A platform for the graph-based visualisation and analysis of high dimensional data

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

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

Linked Mutations at Adjacent Nucleotides Have Shaped Human Population Differentiation and Protein Evolution

Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

Redistribution of H3K27me3 upon DNA hypomethylation results in de-repression of Polycomb target genes

Reply to Webb et al

Sequence-level mechanisms of human epigenome evolution.

Sequencing and analysis of an Irish human genome

Sequencing illustrates the transcriptional response of Legionella pneumophila during infection and identifies seventy novel small non-coding RNAs

Shared regulatory sites are abundant in the human genome and shed light on genome evolution and disease pleiotropy.

Side effects: substantial non-neutral evolution flanking regulatory sites

The host ubiquitin-dependent segregase VCP/p97 is required for the onset of human cytomegalovirus replication.

Transcription forms and remodels supercoiling domains unfolding large-scale chromatin structures

Using regulatory variants to detect gene-gene interactions identifies networks of genes linked to cell immortalisation

Whole-Genome Sequence Data Suggest Environmental Adaptation of Ethiopian Sheep Populations

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

hapbin: An Efficient Program for Performing Haplotype-Based Scans for Positive Selection in Large Genomic Datasets.