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
Corrigendum
Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
- First Published September 1, 2017
Research
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
- First Published October 7, 2016
Method
Reconstructing complex regions of genomes using long-read sequencing technology
- First Published January 13, 2014
Research
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
- First Published March 14, 2012
Research
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
- First Published June 17, 2011
Methods
On the probability that a novel variant is a disease-causing mutation
- First Published June 17, 2005
LETTER
Punctuated duplication seeding events during the evolution of human chromosome 2p11
- 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
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