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Epigenetic and evolutionary features of ape subterminal heterochromatin

  • First Published October 22, 2025

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

  • First Published December 5, 2024

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

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

TBC1D3 gene family in humans" > Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

  • First Published August 6, 2024

Phased nanopore assembly with Shasta and modular graph phasing with GFAse

  • First Published April 16, 2024

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

  • First Published December 7, 2023

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity

  • First Published July 23, 2021

Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats

  • First Published July 9, 2021

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

  • First Published October 22, 2020

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

  • First Published August 14, 2020

Transcriptional fates of human-specific segmental duplications in brain

  • First Published September 18, 2018

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

  • First Published June 8, 2018

Inversion variants in human and primate genomes

  • First Published May 18, 2018

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

  • First Published January 2, 2018

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

  • First Published September 1, 2017

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • First Published April 10, 2017

Discovery and genotyping of structural variation from long-read haploid genome sequence data

  • First Published November 28, 2016

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

  • First Published October 7, 2016

Corrigendum: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals

  • First Published August 3, 2015

Characteristics of de novo structural changes in the human genome

  • First Published April 16, 2015

MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals

  • First Published February 6, 2015

The discovery of integrated gene networks for autism and related disorders

  • First Published November 5, 2014

Single haplotype assembly of the human genome from a hydatidiform mole

  • First Published November 4, 2014

Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline

  • First Published March 27, 2014

Reconstructing complex regions of genomes using long-read sequencing technology

  • First Published January 13, 2014

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

  • First Published September 27, 2013

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

  • First Published July 3, 2013

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

  • First Published October 11, 2012

Xenopus tropicalis transcriptome over development" > RNA sequencing reveals a diverse and dynamic repertoire of the Xenopus tropicalis transcriptome over development

  • First Published September 7, 2012

Copy number variation detection and genotyping from exome sequence data

  • First Published May 14, 2012

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

  • First Published March 14, 2012

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

  • First Published February 2, 2012

Simultaneous structural variation discovery among multiple paired-end sequenced genomes

  • First Published November 2, 2011

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

  • First Published August 8, 2011

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

  • First Published June 17, 2011

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

  • First Published December 3, 2010

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

  • First Published November 16, 2010

De novo rates and selection of large copy number variation

  • First Published September 14, 2010

Analysis of copy number variations among diverse cattle breeds

  • First Published March 8, 2010

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

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

  • First Published June 8, 2009

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

  • First Published May 15, 2009

Alu repeats in primate genomes" > Comparative analysis of Alu repeats in primate genomes

  • First Published May 1, 2009

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

  • First Published January 7, 2009

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

  • First Published November 24, 2008

Haplotype sorting using human fosmid clone end-sequence pairs

  • First Published October 3, 2008

Copy number variation and evolution in humans and chimpanzees

  • First Published September 4, 2008

Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions

  • First Published April 29, 2008

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

  • First Published September 25, 2007

Molecular refinement of gibbon genome rearrangements

  • First Published December 21, 2006

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

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

  • First Published September 16, 2005

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

  • First Published June 17, 2005

Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome

  • First Published January 14, 2005

Recurrent Sites for New Centromere Seeding

  • First Published September 1, 2004

Regional Patterns of Gene Expression in Human and Chimpanzee Brains

  • First Published August 2, 2004

Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q

  • First Published July 15, 2004

Analysis of Segmental Duplications and Genome Assembly in the Mouse

  • First Published May 3, 2004

Recent Segmental Duplications in the Working Draft Assembly of the Brown Norway Rat

  • First Published April 1, 2004

Large-Scale Variation Among Human and Great Ape Genomes Determined by Array Comparative Genomic Hybridization

  • First Published March 1, 2003

Analysis of Primate Genomic Variation Reveals a Repeat-Driven Expansion of the Human Genome

  • First Published March 1, 2003

Genomic Sequence and Transcriptional Profile of the Boundary Between Pericentromeric Satellites and Genes on Human Chromosome Arm 10p

  • First Published January 14, 2003

High-Throughput Variation Detection and Genotyping Using Microarrays

  • First Published October 15, 2001

Sequence Variation Within the Fragile X Locus

  • First Published August 1, 2001

Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly

  • First Published May 8, 2001

The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome

  • First Published June 1, 2000

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

  • First Published May 1, 2000

CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome

  • First Published November 1, 1999

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

  • First Published August 1, 1998

Masquerading Repeats: Paralogous Pitfalls of the Human Genome

  • First Published August 1, 1998
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