Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T
- First Published March 17, 2025
Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
- First Published March 7, 2025
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
- First Published April 16, 2024
A complete pedigree-based graph workflow for rare candidate variant analysis
- First Published April 28, 2022
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- First Published June 21, 2019
Chromosome assembly of large and complex genomes using multiple references
- First Published October 19, 2018