Research
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- First Published September 19, 2024
Resource
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs
- First Published August 16, 2024
Method
cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements
- First Published April 17, 2024
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
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
Research
Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands
- First Published April 20, 2021
Method
Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- First Published June 8, 2018