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
Understanding transcriptional regulation by integrative analysis of transcription factor binding data
- First Published September 5, 2012
Resource
Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors
- First Published September 5, 2012
Research
Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells
- First Published November 16, 2011
Resource
Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity
- First Published July 12, 2011
Method
Efficient storage of high throughput DNA sequencing data using reference-based compression
- First Published January 18, 2011
Method
High-resolution genome-wide in vivo footprinting of diverse transcription factors in human cells
- First Published November 24, 2010