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
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
Research
RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
- First Published November 15, 2021