Research
Gaps and complex structurally variant loci in phased genome assemblies
- First Published May 10, 2023
Method
A complete pedigree-based graph workflow for rare candidate variant analysis
- First Published April 28, 2022
Research
A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci
- First Published March 24, 2022
Method
A framework to score the effects of structural variants in health and disease
- First Published February 23, 2022
Research
Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans
- First Published October 19, 2021
Method
Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- First Published June 8, 2018
Research
A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- First Published November 9, 2016
Method
Chromosome-scale shotgun assembly using an in vitro method for long-range linkage
- First Published February 4, 2016
Research
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
- First Published April 27, 2015