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
An extended set of yeast-based functional assays accurately identifies human disease mutations
- First Published March 14, 2016
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
Resource
C. elegans ORFeome" > Large-scale RACE approach for proactive experimental definition of C. elegans ORFeome
- First Published October 2, 2009
Resource
Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network
- First Published June 23, 2009
Methods
Shifted Transversal Design smart-pooling for high coverage interactome mapping
- First Published May 15, 2009