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Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023

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

  • First Published April 28, 2022

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

  • First Published March 24, 2022

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

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

  • First Published June 8, 2018

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

  • First Published February 4, 2016

Corrigendum: Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • First Published September 1, 2015

Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • First Published March 19, 2015

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

  • First Published December 18, 2014

Violation of the 12/23 rule of genomic V(D)J recombination is common in lymphocytes

  • First Published November 3, 2014

Alignathon: a competitive assessment of whole-genome alignment methods

  • First Published October 1, 2014

Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia" > Population and single-cell genomics reveal the Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia

  • First Published September 15, 2014

GENCODE: The reference human genome annotation for The ENCODE Project

  • First Published September 5, 2012

Preparation of high-quality next-generation sequencing libraries from picogram quantities of target DNA

  • First Published November 16, 2011

PRDM9 coincides with stabilization of the recombination landscape in the dog genome" > Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome

  • First Published October 17, 2011

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

  • First Published September 16, 2011

What fraction of the human genome is functional?

  • First Published August 29, 2011

Cactus: Algorithms for genome multiple sequence alignment

  • First Published June 10, 2011

Natural genetic variation caused by small insertions and deletions in the human genome

  • First Published April 1, 2011

A ChIP-seq defined genome-wide map of vitamin D receptor binding: Associations with disease and evolution

  • First Published August 24, 2010

Massive turnover of functional sequence in human and other mammalian genomes

  • First Published August 6, 2010

Genome assembly quality: Assessment and improvement using the neutral indel model

  • First Published March 19, 2010

The completion of the Mammalian Gene Collection (MGC)

  • First Published September 18, 2009

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

  • First Published June 4, 2009

Reduced purifying selection prevails over positive selection in human copy number variant evolution

  • First Published August 7, 2008

Defensins and the convergent evolution of platypus and reptile venom genes

  • First Published May 7, 2008

Targeted discovery of novel human exons by comparative genomics

  • First Published November 7, 2007

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

  • First Published November 5, 2007

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

  • First Published September 4, 2007

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

  • First Published June 13, 2007

Functionality or transcriptional noise? Evidence for selection within long noncoding RNAs

  • First Published March 26, 2007

Reconstructing contiguous regions of an ancestral genome

  • First Published September 18, 2006

Hotspots of mutation and breakage in dog and human chromosomes

  • First Published December 8, 2005

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

  • First Published July 15, 2005

Exploring relationships and mining data with the UCSC Gene Sorter

  • First Published May 2, 2005

Reconstructing large regions of an ancestral mammalian genome in silico

  • First Published December 1, 2004

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

  • First Published October 15, 2004

Comparative Evolutionary Genomics of Androgen-Binding Protein Genes

  • First Published July 15, 2004

Aligning Multiple Genomic Sequences With the Threaded Blockset Aligner

  • First Published April 1, 2004

Evolution and Comparative Genomics of Odorant- and Pheromone-Associated Genes in Rodents

  • First Published April 1, 2004

Occurrence and Consequences of Coding Sequence Insertions and Deletions in Mammalian Genomes

  • First Published April 1, 2004

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

  • First Published April 1, 2004

Comparative Recombination Rates in the Rat, Mouse, and Human Genomes

  • First Published April 1, 2004

Elevated Rates of Protein Secretion, Evolution, and Disease Among Tissue-Specific Genes

  • First Published January 5, 2004

Identification and Characterization of Multi-Species Conserved Sequences

  • First Published December 1, 2003

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

  • First Published January 1, 2003

Human–Mouse Alignments with BLASTZ

  • First Published December 30, 2002

Predicting Protein Cellular Localization Using a Domain Projection Method

  • First Published August 1, 2002

Systematic Identification of Novel Protein Domain Families Associated with Nuclear Functions

  • First Published January 1, 2002

Assembly of the Working Draft of the Human Genome with GigAssembler

  • First Published August 16, 2001

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

  • First Published April 1, 2000
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