Research
Epigenetic and evolutionary features of ape subterminal heterochromatin
- First Published October 22, 2025
Resource
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
- First Published December 5, 2024
Resource
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
- First Published October 2, 2024
Research
AGAP duplicons associate with structural diversity at Chromosome 10q11.22" > AGAP duplicons associate with structural diversity at Chromosome 10q11.22
- First Published September 25, 2024
Research
TBC1D3 gene family in humans" > Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
- First Published August 6, 2024
Method
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
- First Published April 16, 2024
Research
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
- First Published December 7, 2023
Research
Gaps and complex structurally variant loci in phased genome assemblies
- First Published May 10, 2023
Research
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity
- First Published July 23, 2021
Research
Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
- First Published July 9, 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
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
- First Published August 14, 2020
Method
Transcriptional fates of human-specific segmental duplications in brain
- First Published September 18, 2018
Method
Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- First Published June 8, 2018
Corrigendum
Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data
- First Published January 2, 2018
Corrigendum
Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
- First Published September 1, 2017
Resource
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- First Published April 10, 2017
Research
Discovery and genotyping of structural variation from long-read haploid genome sequence data
- First Published November 28, 2016
Research
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
- First Published October 7, 2016
Corrigendum
Corrigendum: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals
- First Published August 3, 2015
Research
Characteristics of de novo structural changes in the human genome
- First Published April 16, 2015
Method
MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals
- First Published February 6, 2015
Method
The discovery of integrated gene networks for autism and related disorders
- First Published November 5, 2014
Resource
Single haplotype assembly of the human genome from a hydatidiform mole
- First Published November 4, 2014
Resource
Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline
- First Published March 27, 2014
Method
Reconstructing complex regions of genomes using long-read sequencing technology
- First Published January 13, 2014
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
Method
Copy number variation detection and genotyping from exome sequence data
- First Published May 14, 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
Resource
Simultaneous structural variation discovery among multiple paired-end sequenced genomes
- First Published November 2, 2011
Research
Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
- First Published August 8, 2011
Research
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
- First Published June 17, 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
Research
De novo rates and selection of large copy number variation
- First Published September 14, 2010
Resource
Analysis of copy number variations among diverse cattle breeds
- First Published March 8, 2010
Methods
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
- First Published June 22, 2009
Methods
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- First Published June 8, 2009
Methods
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes
- First Published May 15, 2009
Letter
Alu repeats in primate genomes" > Comparative analysis of Alu repeats in primate genomes
- First Published May 1, 2009
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
RESOURCE
Haplotype sorting using human fosmid clone end-sequence pairs
- First Published October 3, 2008
ARTICLE
Copy number variation and evolution in humans and chimpanzees
- First Published September 4, 2008
RESOURCE
DupMasker: A tool for annotating primate segmental duplications" > DupMasker: A tool for annotating primate segmental duplications
- First Published May 23, 2008
LETTER
Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions
- First Published April 29, 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
A genome-wide survey of structural variation between human and chimpanzee
- First Published September 16, 2005
LETTER
Punctuated duplication seeding events during the evolution of human chromosome 2p11
- First Published June 17, 2005
ARTICLE
Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome
- First Published January 14, 2005
ARTICLE
Regional Patterns of Gene Expression in Human and Chimpanzee Brains
- First Published August 2, 2004
LETTER
Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q
- First Published July 15, 2004
ARTICLE
Analysis of Segmental Duplications and Genome Assembly in the Mouse
- First Published May 3, 2004
RESOURCE
Integrated and Sequence-Ordered BAC- and YAC-Based Physical Maps for the Rat Genome
- First Published April 1, 2004
ARTICLE
Recent Segmental Duplications in the Working Draft Assembly of the Brown Norway Rat
- First Published April 1, 2004
ARTICLE
Large-Scale Variation Among Human and Great Ape Genomes Determined by Array Comparative Genomic Hybridization
- First Published March 1, 2003
LETTER
Analysis of Primate Genomic Variation Reveals a Repeat-Driven Expansion of the Human Genome
- First Published March 1, 2003
ARTICLE
Genomic Sequence and Transcriptional Profile of the Boundary Between Pericentromeric Satellites and Genes on Human Chromosome Arm 10p
- First Published January 14, 2003
PERSPECTIVE
Biomedical Applications and Studies of Molecular Evolution: A Proposal for a Primate Genomic Library Resource
- First Published May 1, 2002
METHODS
High-Throughput Variation Detection and Genotyping Using Microarrays
- First Published October 15, 2001
LETTER
Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly
- First Published May 8, 2001
COMMENTARY
Segmental Duplications: What's Missing, Misassigned, and Misassembled—and Should We Care?
- First Published May 1, 2001
LETTER
The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome
- First Published June 1, 2000
REVIEW
Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders
- First Published May 1, 2000
ARTICLE
CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome
- First Published November 1, 1999
INSIGHT/OUTLOOK
Masquerading Repeats: Paralogous Pitfalls of the Human Genome
- First Published August 1, 1998
RESEARCH
Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12
- First Published August 1, 1998