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Research

Single-cell template strand sequencing reveals culture-induced chromosomal instability in a gibbon cell line

  • First Published May 4, 2026
Resource

A high-resolution map of small-scale inversions in the gibbon genome

  • First Published September 30, 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
Resource

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution

  • First Published October 22, 2020
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
Resource

Inversion variants in human and primate genomes

  • First Published May 18, 2018
Corrigendum

Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

  • First Published September 1, 2017
Research

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

  • First Published October 7, 2016
Research

Hominoid fission of chromosome 14/15 and the role of segmental duplications

  • First Published September 27, 2013
Research

Evolution and diversity of copy number variation in the great ape lineage

  • First Published July 3, 2013
Research

LRRC37 gene family" > Evolutionary dynamism of the primate LRRC37 gene family

  • First Published October 11, 2012
Research

The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

  • First Published March 14, 2012
Resource

Copy number variation of individual cattle genomes using next-generation sequencing

  • First Published February 2, 2012
Research

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

  • First Published June 17, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Research

Alu repeat discovery and characterization within human genomes" > Alu repeat discovery and characterization within human genomes

  • First Published December 3, 2010
Method

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

  • First Published November 16, 2010
Resource

Analysis of copy number variations among diverse cattle breeds

  • First Published March 8, 2010
Resource

The genomic architecture of segmental duplications and associated copy number variants in dogs

  • First Published January 7, 2009
LETTER

Sequencing human–gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

  • First Published November 24, 2008
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
LETTER

A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications

  • First Published April 10, 2006
LETTER

A genome-wide survey of structural variation between human and chimpanzee

  • First Published September 16, 2005
Methods

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

  • First Published June 17, 2005
LETTER

Punctuated duplication seeding events during the evolution of human chromosome 2p11

  • First Published June 17, 2005
LETTER

Recurrent Sites for New Centromere Seeding

  • First Published September 1, 2004
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004
ARTICLE

Analysis of Segmental Duplications and Genome Assembly in the Mouse

  • First Published May 3, 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

Complex Events in the Evolution of the Human Pseudoautosomal Region 2 (PAR2)

  • First Published January 14, 2003
LETTER

Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25

  • First Published January 1, 2003
LETTER

KIAA0187 Were Created through Independent Pericentromeric-Directed and Chromosome-Specific Duplication Mechanisms" > Human Paralogs of KIAA0187 Were Created through Independent Pericentromeric-Directed and Chromosome-Specific Duplication Mechanisms

  • First Published January 1, 2002
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
LETTER

Centromere Emergence in Evolution

  • First Published April 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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