Research
Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources
- First Published May 14, 2026
Research
Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
- First Published March 7, 2025
Method
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
- First Published April 16, 2024
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
RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
- First Published November 15, 2021
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
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
Method
Chromosome assembly of large and complex genomes using multiple references
- First Published October 19, 2018
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
Research
Mus caroli and Mus pahari genomes" > Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes
- First Published March 21, 2018
Method
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
- First Published October 11, 2017
Research
Improved genome assembly of American alligator genome reveals conserved architecture of estrogen signaling
- First Published January 30, 2017
Resource
Alignathon: a competitive assessment of whole-genome alignment methods
- First Published October 1, 2014
Resource
Assemblathon 1: A competitive assessment of de novo short read assembly methods
- First Published September 16, 2011
Methods
Enredo and Pecan: Genome-wide mammalian consistency-based multiple alignment with paralogs
- First Published October 10, 2008
Methods
Genome-wide nucleotide-level mammalian ancestor reconstruction
- First Published October 10, 2008
ARTICLE
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
- First Published June 13, 2007
Methods
On the probability that a novel variant is a disease-causing mutation
- First Published June 17, 2005
LETTER
The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection
- First Published May 3, 2004
RESOURCE
Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans
- First Published October 2, 2003
ARTICLE
Linkage Disequilibrium and Haplotype Diversity in the Genes of the Renin–Angiotensin System: Findings From the Family Blood Pressure Program
- First Published January 14, 2003
RESOURCE
viewGene : A Graphical Tool for Polymorphism Visualization and Characterization" > viewGene : A Graphical Tool for Polymorphism Visualization and Characterization
- First Published February 1, 2002
METHODS
High-Throughput Variation Detection and Genotyping Using Microarrays
- First Published October 15, 2001
COMMENTARY
The Human Genome Sequence Expedition: Views from the “Base Camp”
- First Published May 1, 2001
ARTICLE
Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
- First Published September 1, 2000
LETTER
Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays
- First Published June 1, 2000
INSIGHT/OUTLOOK
A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation
- First Published December 1, 1998
RESEARCH
Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes
- First Published February 1, 1998
EDITORIAL
The End of the Beginning: The Race to Begin Human Genome Sequencing
- First Published September 1, 1996