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Research

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system

  • First Published September 16, 2026
In memoriam

Jim Watson (1928–2025): a genomics visionary

  • First Published July 23, 2026
Research

Epigenetic characterization of pseudogenes across human tissues

  • First Published April 15, 2026
Resource

Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships

  • First Published October 22, 2024
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

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
Method

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

  • First Published August 23, 2018
Research

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

  • First Published March 21, 2018
Research

Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

  • First Published September 11, 2013
Research

The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

  • First Published March 11, 2013
Research

Understanding transcriptional regulation by integrative analysis of transcription factor binding data

  • First Published September 5, 2012
Resource

GENCODE: The reference human genome annotation for The ENCODE Project

  • First Published September 5, 2012
Resource

ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia

  • First Published September 5, 2012
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Resource

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

  • First Published February 7, 2011
Research

Diverse transcription factor binding features revealed by genome-wide ChIP-seq in C. elegans

  • First Published December 22, 2010
Methods

MSB: A mean-shift-based approach for the analysis of structural variation in the genome

  • First Published November 26, 2008
LETTER

A genomic analysis of RNA polymerase II modification and chromatin architecture related to 3′ end RNA polyadenylation

  • First Published May 16, 2008
LETTER

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

  • First Published February 7, 2008
Methods

Predicting essential genes in fungal genomes

  • First Published August 9, 2006
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

Design optimization methods for genomic DNA tiling arrays

  • First Published December 19, 2005
LETTER

Assessing the limits of genomic data integration for predicting protein networks

  • First Published July 5, 2005
Methods

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

  • First Published June 17, 2005
LETTER

Multi-species microarrays reveal the effect of sequence divergence on gene expression profiles

  • First Published May 2, 2005
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004
Methods

Annotation Transfer Between Genomes: Protein–Protein Interologs and Protein–DNA Regulogs

  • First Published June 1, 2004
LETTER

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

  • First Published May 3, 2004
LETTER

Millions of Years of Evolution Preserved: A Comprehensive Catalog of the Processed Pseudogenes in the Human Genome

  • First Published December 1, 2003
RESOURCE

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

  • First Published October 2, 2003
METHODS

Spectral Biclustering of Microarray Data: Coclustering Genes and Conditions

  • First Published April 1, 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

Systematic Learning of Gene Functional Classes From DNA Array Expression Data by Using Multilayer Perceptrons

  • First Published November 1, 2002
ARTICLE

Identification and Analysis of Over 2000 Ribosomal Protein Pseudogenes in the Human Genome

  • First Published October 1, 2002
RESOURCE

viewGene : A Graphical Tool for Polymorphism Visualization and Characterization

  • First Published February 1, 2002
LETTER

Molecular Fossils in the Human Genome: Identification and Analysis of the Pseudogenes in Chromosomes 21 and 22

  • First Published February 1, 2002
LETTER

Relating Whole-Genome Expression Data with Protein-Protein Interactions

  • First Published January 1, 2002
METHODS

High-Throughput Variation Detection and Genotyping Using Microarrays

  • First Published October 15, 2001
LETTER

Annotation Transfer for Genomics: Measuring Functional Divergence in Multi-Domain Proteins

  • First Published October 1, 2001
INSIGHT/OUTLOOK

Interrelating Different Types of Genomic Data, from Proteome to Secretome: 'Oming in on Function

  • First Published September 1, 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

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
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