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Research

Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources

  • First Published May 14, 2026
Method

Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025
Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Method

A complete pedigree-based graph workflow for rare candidate variant analysis

  • First Published April 28, 2022
Research

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci

  • First Published March 24, 2022
Research

Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans

  • First Published October 19, 2021
Method

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

  • First Published June 8, 2018
Research

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

  • First Published February 25, 2016
Method

Chromosome-scale shotgun assembly using an in vitro method for long-range linkage

  • First Published February 4, 2016
Resource

Alignathon: a competitive assessment of whole-genome alignment methods

  • First Published October 1, 2014
Method

Alu insertions in diverse human populations" > Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

  • First Published April 18, 2013
Resource

GENCODE: The reference human genome annotation for The ENCODE Project

  • First Published September 5, 2012
Resource

Assemblathon 1: A competitive assessment of de novo short read assembly methods

  • First Published September 16, 2011
Resource

Cactus: Algorithms for genome multiple sequence alignment

  • First Published June 10, 2011
Perspective

Reading TE leaves: New approaches to the identification of transposable element insertions

  • First Published June 1, 2011
Resource

The completion of the Mammalian Gene Collection (MGC)

  • First Published September 18, 2009
Letter

5′-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

  • First Published August 3, 2009
Resource

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

  • First Published June 4, 2009
Letter

Mobile elements create structural variation: Analysis of a complete human genome

  • First Published May 13, 2009
Methods

Targeted discovery of novel human exons by comparative genomics

  • First Published November 7, 2007
RESOURCE

28-Way vertebrate alignment and conservation track in the UCSC Genome Browser

  • First Published November 5, 2007
LETTER

Biased clustered substitutions in the human genome: The footprints of male-driven biased gene conversion

  • First Published September 4, 2007
ARTICLE

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

  • First Published June 13, 2007
LETTER

Monodelphis domestica" > Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica

  • First Published May 10, 2007
Methods

Reconstructing contiguous regions of an ancestral genome

  • First Published September 18, 2006
ARTICLE

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

  • First Published July 15, 2005
RESOURCE

Exploring relationships and mining data with the UCSC Gene Sorter

  • First Published May 2, 2005
LETTER

Alu amplification" > Under the genomic radar: The Stealth model of Alu amplification

  • First Published May 2, 2005
LETTER

Reconstructing large regions of an ancestral mammalian genome in silico

  • First Published December 1, 2004
LETTER

Analysis of Human mRNAs With the Reference Genome Sequence Reveals Potential Errors, Polymorphisms, and RNA Editing

  • First Published October 15, 2004
LETTER

Alu Mobilization and Polymorphism Among the Human and Chimpanzee Lineages" > Differential Alu Mobilization and Polymorphism Among the Human and Chimpanzee Lineages

  • First Published June 1, 2004
RESOURCE

Aligning Multiple Genomic Sequences With the Threaded Blockset Aligner

  • First Published April 1, 2004
ARTICLE

Patterns of Insertions and Their Covariation With Substitutions in the Rat, Mouse, and Human Genomes

  • First Published April 1, 2004
ARTICLE

Identification and Characterization of Multi-Species Conserved Sequences

  • First Published December 1, 2003
LETTER

Alu Insertion Polymorphisms" > Genetic Variation Among World Populations: Inferences From 100 Alu Insertion Polymorphisms

  • First Published June 12, 2003
LETTER

Y Chromosome STR Haplotypes and the Genetic Structure of U.S. Populations of African, European, and Hispanic Ancestry

  • First Published April 1, 2003
ARTICLE

Covariation in Frequencies of Substitution, Deletion, Transposition, and Recombination During Eutherian Evolution

  • First Published January 1, 2003
METHODS

Human–Mouse Alignments with BLASTZ

  • First Published December 30, 2002
REVIEW

Mammalian Retroelements

  • First Published October 1, 2002
LETTER

Active Alu Element “A-Tails”: Size Does Matter

  • First Published August 21, 2002
LETTER

Patterns of Human Diversity, within and among Continents, Inferred from Biallelic DNA Polymorphisms

  • First Published April 1, 2002
METHODS

Assembly of the Working Draft of the Human Genome with GigAssembler

  • First Published August 16, 2001
LETTER

Genetic Evidence on the Origins of Indian Caste Populations

  • First Published May 8, 2001
ARTICLE

Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

  • First Published October 1, 2000
LETTER

Reading between the LINEs: Human Genomic Variation Induced by LINE-1 Retrotransposition

  • First Published October 1, 2000
METHODS

Genie—Gene Finding in Drosophila melanogaster " > Genie—Gene Finding in Drosophila melanogaster

  • First Published April 1, 2000
LETTER

AluInsertion Polymorphisms and Human Evolution: Evidence for a Larger Population Size in Africa " > AluInsertion Polymorphisms and Human Evolution: Evidence for a Larger Population Size in Africa

  • First Published November 1, 1997
INSIGHT/OUTLOOK

Modeling Human Evolution—To Tree or Not to Tree?

  • First Published October 1, 1997
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