Research
T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population
- First Published September 16, 2025
Research
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
- First Published November 1, 2024
Research
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
- First Published October 29, 2024
Resource
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
- First Published August 15, 2024
Resource
Precision environmental health monitoring by longitudinal exposome and multi-omics profiling
- First Published June 6, 2022
Method
Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome
- First Published December 1, 2017
Resource
Annotation of functional variation in personal genomes using RegulomeDB
- First Published September 5, 2012
Resource
Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors
- First Published September 5, 2012
Method
Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements
- First Published September 5, 2012
Research
A highly integrated and complex PPARGC1A transcription factor binding network in HepG2 cells
- First Published September 5, 2012