A complete pedigree-based graph workflow for rare candidate variant analysis
- First Published April 28, 2022
Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- First Published June 8, 2018
Detection of long repeat expansions from PCR-free whole-genome sequence data
- First Published September 8, 2017
An extended set of yeast-based functional assays accurately identifies human disease mutations
- First Published March 14, 2016
Chromosome-scale shotgun assembly using an in vitro method for long-range linkage
- First Published February 4, 2016