Lista de obras - Elliott H. Margulies - Dominio Público Uruguay

A Bioinformatics Approach for Determining Sample Identity from Different Lanes of High-Throughput Sequencing Data ⬇️

artículo científico publicado el 17 de agosto de 2011

A high-resolution map of human evolutionary constraint using 29 mammals

artículo científico publicado en 2011

A new strategy for genome assembly using short sequence reads and reduced representation libraries

artículo científico publicado en 2010

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

artículo científico publicado en 2016

A transcriptomic atlas of mouse neocortical layers

artículo científico publicado en 2011

Accurate and comprehensive sequencing of personal genomes

artículo científico publicado en 2011

Adult pallium transcriptomes surprise in not reflecting predicted homologies across diverse chicken and mouse pallial sectors.

artículo científico publicado en 2013

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

artículo científico publicado en 2009

An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing

artículo científico publicado en 2005

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

artículo científico publicado en 2007

Approaches to comparative sequence analysis: towards a functional view of vertebrate genomes

artículo científico publicado en 2008

Comparative sequencing provides insights about the structure and conservation of marsupial and monotreme genomes

artículo científico publicado en 2005

Differences between pair-wise and multi-sequence alignment methods affect vertebrate genome comparisons

artículo científico publicado en 2006

Early history of mammals is elucidated with the ENCODE multiple species sequencing data

artículo científico publicado en 2007

Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.

artículo científico publicado en 2011

Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection

artículo científico publicado en 2012

Functional constraint and small insertions and deletions in the ENCODE regions of the human genome

artículo científico publicado en 2007

Gene expression in donor corneal endothelium

artículo científico publicado en 2003

Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation

artículo científico publicado en 2011

Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites

artículo científico publicado en 2012

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

artículo científico publicado en 2005

Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci

artículo científico publicado en 2010

High-resolution mapping and characterization of open chromatin across the genome

artículo científico publicado en 2008

Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect

artículo científico publicado en 2010

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Identification and characterization of multi-species conserved sequences

artículo científico publicado en 2003

Large-scale sequencing of the CD33-related Siglec gene cluster in five mammalian species reveals rapid evolution by multiple mechanisms

artículo científico publicado en 2004

Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements

artículo científico publicado en 2007

Local DNA topography correlates with functional noncoding regions of the human genome

artículo científico publicado en 2009

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes

artículo científico publicado en 2012

National Cancer Institute Prostate Cancer Genetics Workshop

artículo científico publicado en 2011

Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler

artículo científico publicado en 2009

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

artículo científico publicado en 2012

SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach

artículo científico publicado en 2007

Sequencing studies in human genetics: design and interpretation.

artículo científico publicado en 2013

Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin

artículo científico publicado en 2014

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

artículo científico publicado en 2010

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma

artículo científico publicado en 2013

Lista de obras de Elliott H. Margulies

A Bioinformatics Approach for Determining Sample Identity from Different Lanes of High-Throughput Sequencing Data ⬇️

A high-resolution map of human evolutionary constraint using 29 mammals

A new strategy for genome assembly using short sequence reads and reduced representation libraries

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

A transcriptomic atlas of mouse neocortical layers

Accurate and comprehensive sequencing of personal genomes

Adult pallium transcriptomes surprise in not reflecting predicted homologies across diverse chicken and mouse pallial sectors.

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Approaches to comparative sequence analysis: towards a functional view of vertebrate genomes

Comparative sequencing provides insights about the structure and conservation of marsupial and monotreme genomes

Differences between pair-wise and multi-sequence alignment methods affect vertebrate genome comparisons

Early history of mammals is elucidated with the ENCODE multiple species sequencing data

Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.

Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection

Functional constraint and small insertions and deletions in the ENCODE regions of the human genome

Gene expression in donor corneal endothelium

Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation

Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci

High-resolution mapping and characterization of open chromatin across the genome

Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Identification and characterization of multi-species conserved sequences

Large-scale sequencing of the CD33-related Siglec gene cluster in five mammalian species reveals rapid evolution by multiple mechanisms

Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements

Local DNA topography correlates with functional noncoding regions of the human genome

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes

National Cancer Institute Prostate Cancer Genetics Workshop

Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach

Sequencing studies in human genetics: design and interpretation.

Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma