Method
Accurate sequencing of DNA motifs able to form alternative (non-B) structures
- First Published July 11, 2023
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
Method
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
Research
Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome
- First Published June 29, 2021
Research
Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate
- First Published November 6, 2018
Corrigendum
Corrigendum: A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?
- First Published October 3, 2016
Method
A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y
- First Published March 2, 2016
Method
Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
- First Published March 30, 2015
Research
The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
- First Published March 11, 2013
Research
A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?
- First Published March 28, 2012
Research
A matter of life or death: How microsatellites emerge in and vanish from the human genome
- First Published October 12, 2011
Research
The (r)evolution of SINE versus LINE distributions in primate genomes: Sex chromosomes are important
- First Published March 10, 2010
Letter
Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions
- First Published June 5, 2009
LETTER
The genome-wide determinants of human and chimpanzee microsatellite evolution
- First Published November 21, 2007
RESOURCE
A framework for collaborative analysis of ENCODE data: Making large-scale analyses biologist-friendly
- 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
LETTER
Insertions and Deletions Are Male Biased Too: A Whole-Genome Analysis in Rodents
- First Published April 1, 2004
RESOURCE
Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans
- First Published October 2, 2003
LETTER
Divergence in the Spatial Pattern of Gene Expression Between Human Duplicate Genes
- First Published July 1, 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