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In memoriam

Jim Watson (1928–2025): a genomics visionary

  • First Published July 23, 2026
Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

  • First Published December 5, 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

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

High-resolution structural genomics reveals new therapeutic vulnerabilities in glioblastoma

  • First Published June 27, 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

TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data

  • First Published July 24, 2014
Method

Functional DNA methylation differences between tissues, cell types, and across individuals discovered using the M&M algorithm

  • First Published June 26, 2013
Method

Estimating absolute methylation levels at single-CpG resolution from methylation enrichment and restriction enzyme sequencing methods

  • First Published June 26, 2013
Method

Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer

  • First Published May 25, 2012
Research

Extensive relationship between antisense transcription and alternative splicing in the human genome

  • First Published June 30, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Research

Drosophila melanogaster microRNAs yields insights into their processing, modification, and emergence" > Deep annotation of Drosophila melanogaster microRNAs yields insights into their processing, modification, and emergence

  • First Published December 22, 2010
Research

Locus co-occupancy, nucleosome positioning, and H3K4me1 regulate the functionality of FOXA2-, HNF4A-, and PDX1-bound loci in islets and liver

  • First Published June 15, 2010
Resource

The completion of the Mammalian Gene Collection (MGC)

  • First Published September 18, 2009
Methods

Next-generation tag sequencing for cancer gene expression profiling

  • First Published June 18, 2009
Resource

Circos: An information aesthetic for comparative genomics

  • First Published June 18, 2009
LETTER

In-depth characterization of the microRNA transcriptome in a leukemia progression model

  • First Published October 10, 2008
LETTER

Genome-wide relationship between histone H3 lysine 4 mono- and tri-methylation and transcription factor binding

  • First Published September 11, 2008
Methods

Application of massively parallel sequencing to microRNA profiling and discovery in human embryonic stem cells

  • First Published February 19, 2008
LETTER

Caenorhabditis elegans operons" > Identification and analysis of internal promoters in Caenorhabditis elegans operons

  • First Published August 21, 2007
ARTICLE

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

  • First Published June 13, 2007
Methods

Large-scale production of SAGE libraries from microdissected tissues, flow-sorted cells, and cell lines

  • First Published November 29, 2006
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

Physical map-assisted whole-genome shotgun sequence assemblies

  • First Published June 1, 2006
RESOURCE

Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling" > Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling

  • First Published May 3, 2006
LETTER

Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla

  • First Published December 19, 2005
Methods

Simple, robust methods for high-throughput nanoliter-scale DNA sequencing

  • First Published September 16, 2005
Methods

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

  • First Published June 17, 2005
ARTICLE

C. elegans daf-2 mutants using serial analysis of gene expression" > Analysis of long-lived C. elegans daf-2 mutants using serial analysis of gene expression

  • First Published April 18, 2005
Methods

Systematic Recovery and Analysis of Full-ORF Human cDNA Clones

  • First Published October 15, 2004
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 and Application of a Salmonid EST Database and cDNA Microarray: Data Mining and Interspecific Hybridization Characteristics

  • First Published February 12, 2004
RESOURCE

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

  • First Published October 2, 2003
RESOURCE

Internet Contig Explorer (iCE)—A Tool for Visualizing Clone Fingerprint Maps

  • First Published June 1, 2003
Methods

Assessment of SAGE in Transcript Identification

  • First Published May 12, 2003
METHODS

Software for Automated Analysis of DNA Fingerprinting Gels

  • First Published May 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
RESOURCE

Cryptococcus neoformans " > Physical Maps for Genome Analysis of Serotype A and D Strains of the Fungal Pathogen Cryptococcus neoformans

  • First Published August 21, 2002
METHODS

High-Throughput Variation Detection and Genotyping Using Microarrays

  • First Published October 15, 2001
RESOURCE

An Oligonucleotide Fingerprint Normalized and Expressed Sequence Tag Characterized Zebrafish cDNA Library

  • First Published August 16, 2001
LETTER

Sequence Variation Within the Fragile X Locus

  • First Published August 1, 2001
ARTICLE

Caenorhabditis elegans " > Changes in Gene Expression Associated with Developmental Arrest and Longevity in Caenorhabditis elegans

  • First Published July 12, 2001
COMMENTARY

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

  • First Published May 1, 2001
METHODS

Theories and Applications for Sequencing Randomly Selected Clones

  • First Published January 18, 2001
LETTER

Identifying Potential Tumor Markers and Antigens by Database Mining and Rapid Expression Screening

  • First Published September 1, 2000
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