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Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Research

Diversity, duplication, and genomic organization of homeobox genes in Lepidoptera

  • First Published December 8, 2022
In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • First Published July 20, 2021
Research

Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma

  • First Published August 20, 2020
Resource

A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection

  • First Published October 24, 2019
Method

Chromosome assembly of large and complex genomes using multiple references

  • First Published October 19, 2018
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • First Published August 23, 2018
Research

Mus caroli and Mus pahari genomes" > Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes

  • First Published March 21, 2018
Corrigendum

Corrigendum: Characterization of the neural stem cell gene regulatory network identifies OLIG2 as a multifunctional regulator of self-renewal

  • First Published December 1, 2017
Method

cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis" > Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis

  • First Published October 11, 2017
Method

Co-expression networks reveal the tissue-specific regulation of transcription and splicing

  • First Published October 11, 2017
Resource

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • First Published April 10, 2017
Corrigendum

Corrigendum: Characterization of the neural stem cell gene regulatory network identifies OLIG2 as a multifunctional regulator of self-renewal

  • First Published November 1, 2016
Research

Spatial enhancer clustering and regulation of enhancer-proximal genes by cohesin

  • First Published February 12, 2015
Research

Whole-epigenome analysis in multiple myeloma reveals DNA hypermethylation of B cell-specific enhancers

  • First Published February 2, 2015
Research

Decoupling of evolutionary changes in transcription factor binding and gene expression in mammals

  • First Published November 13, 2014
Research

Characterization of the neural stem cell gene regulatory network identifies OLIG2 as a multifunctional regulator of self-renewal

  • First Published October 7, 2014
Research

Cohesin-based chromatin interactions enable regulated gene expression within preexisting architectural compartments

  • First Published September 3, 2013
Research

cis-trans regulation in the evolution of mouse gene expression" > Extensive compensatory cis-trans regulation in the evolution of mouse gene expression

  • First Published August 23, 2012
Research

cis-regulatory modules" > Cohesin regulates tissue-specific expression by stabilizing highly occupied cis-regulatory modules

  • First Published July 10, 2012
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Research

The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance

  • First Published April 29, 2010
Research

A CTCF-independent role for cohesin in tissue-specific transcription

  • First Published March 10, 2010
Letter

Functional diversity for REST (NRSF) is defined by in vivo binding affinity hierarchies at the DNA sequence level

  • First Published April 28, 2009
Methods

Genome-wide nucleotide-level mammalian ancestor reconstruction

  • First Published October 10, 2008
RESOURCE

An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)

  • First Published June 24, 2008
LETTER

Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets

  • First Published February 7, 2008
ARTICLE

The landscape of histone modifications across 1% of the human genome in five human cell lines

  • First Published June 13, 2007
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

On the probability that a novel variant is a disease-causing mutation

  • First Published June 17, 2005
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004
LETTER

The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection

  • First Published May 3, 2004
RESOURCE

Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans

  • First Published October 2, 2003
ARTICLE

Linkage Disequilibrium and Haplotype Diversity in the Genes of the Renin–Angiotensin System: Findings From the Family Blood Pressure Program

  • First Published January 14, 2003
LETTER

Leveraging the Mouse Genome for Gene Prediction in Human: From Whole-Genome Shotgun Reads to a Global Synteny Map

  • First Published January 1, 2003
METHODS

High-Throughput Variation Detection and Genotyping Using Microarrays

  • First Published October 15, 2001
LETTER

Sequence Variation Within the Fragile X Locus

  • First Published August 1, 2001
COMMENTARY

The Human Genome Sequence Expedition: Views from the “Base Camp”

  • First Published May 1, 2001
ARTICLE

Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

  • First Published September 1, 2000
LETTER

Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays

  • First Published June 1, 2000
ARTICLE

Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome" > The Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome

  • First Published March 1, 1999
INSIGHT/OUTLOOK

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation

  • First Published December 1, 1998
RESEARCH

Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes

  • First Published February 1, 1998
EDITORIAL

The End of the Beginning: The Race to Begin Human Genome Sequencing

  • First Published September 1, 1996
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