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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
Resource

Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci

  • First Published September 19, 2019
Research

An AR-ERG transcriptional signature defined by long-range chromatin interactomes in prostate cancer cells

  • First Published January 3, 2019
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
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

D. melanogaster modENCODE transcriptome annotation" > Comparative validation of the D. melanogaster modENCODE transcriptome annotation

  • First Published July 1, 2014
Resource

Drosophila melanogaster" > Diverse patterns of genomic targeting by transcriptional regulators in Drosophila melanogaster

  • First Published July 1, 2014
Research

Evolutionary dynamics and tissue specificity of human long noncoding RNAs in six mammals

  • First Published January 15, 2014
Method

Most parsimonious reconciliation in the presence of gene duplication, loss, and deep coalescence using labeled coalescent trees

  • First Published December 5, 2013
Resource

Integrating and mining the chromatin landscape of cell-type specificity using self-organizing maps

  • First Published October 29, 2013
Method

Arboretum: Reconstruction and analysis of the evolutionary history of condition-specific transcriptional modules

  • First Published May 2, 2013
Research

Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay

  • First Published March 19, 2013
Research

Constitutive nuclear lamina–genome interactions are highly conserved and associated with A/T-rich sequence

  • First Published November 2, 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
Method

Drosophila melanogaster by integrative inference of transcriptional networks" > Predictive regulatory models in Drosophila melanogaster by integrative inference of transcriptional networks

  • First Published March 28, 2012
Method

Unified modeling of gene duplication, loss, and coalescence using a locus tree

  • First Published January 23, 2012
Research

Drosophila and other metazoa" > Evidence of abundant stop codon readthrough in Drosophila and other metazoa

  • First Published October 12, 2011
Method

Locating protein-coding sequences under selection for additional, overlapping functions in 29 mammalian genomes

  • First Published October 12, 2011
Method

New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes

  • First Published October 12, 2011
Research

Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration

  • First Published July 27, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Resource

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

  • First Published June 4, 2009
Platypus Special/Letter

Conservation of small RNA pathways in platypus

  • First Published May 7, 2008
12 Drosophila Genomes/Methods

Drosophila genomes" > Reliable prediction of regulator targets using 12 Drosophila genomes

  • First Published November 7, 2007
12 Drosophila Genomes/Letter

Drosophila melanogaster using 12 fly genomes" > Revisiting the protein-coding gene catalog of Drosophila melanogaster using 12 fly genomes

  • First Published November 7, 2007
12 Drosophila Genomes/Letter

Drosophila microRNAs" > Evolution, biogenesis, expression, and target predictions of a substantially expanded set of Drosophila microRNAs

  • First Published November 7, 2007
12 Drosophila Genomes/Letter

Drosophila genomes" > Systematic discovery and characterization of fly microRNAs using 12 Drosophila genomes

  • First Published November 7, 2007
12 Drosophila Genomes/Methods

Accurate gene-tree reconstruction by learning gene- and species-specific substitution rates across multiple complete genomes

  • First Published November 7, 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
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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