Perspective
The impact of long-read sequencing on human population-scale genomics
- First Published April 14, 2025
Resource
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
- First Published December 5, 2024
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
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
- First Published December 7, 2023
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