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Research

Epigenetic characterization of pseudogenes across human tissues

  • First Published April 15, 2026
Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • First Published April 15, 2025
Resource

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

  • First Published October 22, 2024
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
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
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

  • First Published January 11, 2016
Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

  • First Published April 27, 2015
Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

  • First Published January 3, 2014
Research

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

  • First Published September 11, 2013
Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  • First Published June 19, 2013
Resource

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

  • First Published May 28, 2013
Research

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

  • First Published March 11, 2013
Resource

GENCODE: The reference human genome annotation for The ENCODE Project

  • First Published September 5, 2012
Research

Understanding transcriptional regulation by integrative analysis of transcription factor binding data

  • First Published September 5, 2012
Resource

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

  • First Published September 5, 2012
Research

DNA methylation profiles of human active and inactive X chromosomes

  • First Published August 23, 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

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

  • First Published December 22, 2010
Method

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

  • First Published July 14, 2010
Methods

Transcriptional and post-transcriptional profile of human chromosome 21

  • First Published July 6, 2009
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
RESOURCE

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

  • First Published September 25, 2007
LETTER

Structured RNAs in the ENCODE selected regions of the human genome

  • First Published June 13, 2007
ARTICLE

Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions

  • First Published June 13, 2007
ARTICLE

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

  • First Published June 13, 2007
Methods

Predicting essential genes in fungal genomes

  • First Published August 9, 2006
Methods

Design optimization methods for genomic DNA tiling arrays

  • First Published December 19, 2005
LETTER

Tandem chimerism as a means to increase protein complexity in the human genome

  • First Published December 12, 2005
LETTER

Assessing the limits of genomic data integration for predicting protein networks

  • First Published July 5, 2005
LETTER

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

  • First Published May 2, 2005
LETTER

Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome

  • First Published July 1, 2004
Methods

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

  • First Published June 1, 2004
LETTER

Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic Environment

  • First Published April 12, 2004
LETTER

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

  • First Published December 1, 2003
METHODS

Spectral Biclustering of Microarray Data: Coclustering Genes and Conditions

  • First Published April 1, 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
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
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
RESOURCE

A cSNP Map and Database for Human Chromosome 21

  • First Published January 18, 2001
LETTER

The Mouse Brain Transcriptome by SAGE: Differences in Gene Expression between P30 Brains of the Partial Trisomy 16 Mouse Model of Down Syndrome (Ts65Dn) and Normals

  • First Published December 1, 2000
ARTICLE

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

  • First Published September 1, 2000
LETTER

A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes

  • First Published November 1, 1999
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