List of works - Elliott H. Margulies

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

scientific article published on August 17, 2011

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

scientific article

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

scientific article

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

scientific article

A transcriptomic atlas of mouse neocortical layers

scientific article

Accurate and comprehensive sequencing of personal genomes

scientific article

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

scientific article published on 22 July 2013

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

scientific article

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

scientific article (publication date: 29 March 2005)

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

scientific article published in June 2007

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

scientific article published on April 2008

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

scientific article

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

scientific article

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

scientific article published on 5 January 2007

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

scientific article

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

scientific article

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

scientific article published on January 2007

Gene expression in donor corneal endothelium

scientific article

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

scientific article published on 6 September 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in June 2007

Identification and characterization of multi-species conserved sequences

scientific article

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

scientific article

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

scholarly article

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

scientific article published on 12 March 2009

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

scientific article

National Cancer Institute Prostate Cancer Genetics Workshop

scientific article

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

scientific article

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

scientific article

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

scientific article

Sequencing studies in human genetics: design and interpretation.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 July 2013

List of works by 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