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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
Method

Analyzing rare mutations in metagenomes assembled using long and accurate reads

  • First Published November 23, 2022
Method

Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

  • First Published November 15, 2022
Method

Automated annotation of human centromeres with HORmon

  • First Published May 11, 2022
Method

Gene prediction in the immunoglobulin loci

  • First Published May 11, 2022
Method

Variations in antibody repertoires correlate with vaccine responses

  • First Published March 31, 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

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

BiosyntheticSPAdes: reconstructing biosynthetic gene clusters from assembly graphs

  • First Published June 3, 2019
Method

Plasmid detection and assembly in genomic and metagenomic data sets

  • First Published May 2, 2019
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
Resource

Inversion variants in human and primate genomes

  • First Published May 18, 2018
Method

Detection and analysis of ancient segmental duplications in mammalian genomes

  • First Published May 7, 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
Method

metaSPAdes: a new versatile metagenomic assembler

  • First Published March 15, 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
Method

Porphyromonas gingivalis recovered from a biofilm in a hospital sink using a high-throughput single-cell genomics platform" > Genome of the pathogen Porphyromonas gingivalis recovered from a biofilm in a hospital sink using a high-throughput single-cell genomics platform

  • First Published April 5, 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
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