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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

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

  • First Published September 19, 2024
Resource

Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs

  • First Published August 16, 2024
Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Research

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

  • First Published April 20, 2021
Method

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

  • First Published June 8, 2018
Research

Evaluating recovery potential of the northern white rhinoceros from cryopreserved somatic cells

  • First Published May 24, 2018
Resource

A genome-wide interactome of DNA-associated proteins in the human liver

  • First Published October 11, 2017
Research

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

  • First Published November 9, 2016
Research

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

  • First Published October 20, 2015
Perspective

Parlez-vous VUS?

  • First Published October 1, 2015
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
Letter

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

  • First Published January 12, 2010
Resource

The completion of the Mammalian Gene Collection (MGC)

  • First Published September 18, 2009
Methods

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

  • First Published June 8, 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
PERSPECTIVE

Qualifying the relationship between sequence conservation and molecular function

  • First Published February 1, 2008
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
ARTICLE

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

  • First Published June 13, 2007
ARTICLE

Distribution and intensity of constraint in mammalian genomic sequence

  • First Published June 17, 2005
LETTER

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

  • First Published October 15, 2004
Methods

Automated Whole-Genome Multiple Alignment of Rat, Mouse, and Human

  • First Published April 1, 2004
LETTER

Characterization of Evolutionary Rates and Constraints in Three Mammalian Genomes

  • First Published April 1, 2004
LETTER

Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes

  • First Published May 1, 2003
METHODS

LAGAN and Multi-LAGAN: Efficient Tools for Large-Scale Multiple Alignment of Genomic DNA

  • First Published March 12, 2003
ARTICLE

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

  • First Published January 1, 2003
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