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
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- First Published April 10, 2017
Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes
- First Published December 16, 2016
An extended set of yeast-based functional assays accurately identifies human disease mutations
- First Published March 14, 2016