Research
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- First Published June 21, 2019
Research
Pathogenicity and selective constraint on variation near splice sites
- First Published December 26, 2018
Method
Detection of structural mosaicism from targeted and whole-genome sequencing data
- First Published August 30, 2017
Method
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
- First Published December 19, 2013
Research
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
- First Published March 22, 2010
Letter
Functional diversity for REST (NRSF) is defined by in vivo binding affinity hierarchies at the DNA sequence level
- First Published April 28, 2009
LETTER
Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets
- First Published February 7, 2008
ARTICLE
Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes
- First Published June 13, 2007
ARTICLE
The landscape of histone modifications across 1% of the human genome in five human cell lines
- First Published June 13, 2007
Methods
Accurate and reliable high-throughput detection of copy number variation in the human genome
- First Published November 22, 2006