Rare disease and cancer genomics
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
- A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
- Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
- Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
- High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
- Leveraging the power of long reads for targeted sequencing
- Unraveling the architecture of major histocompatibility complex class II haplotypes in rhesus macaques
- Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes
- Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations
- Long-read RNA sequencing of archival tissues reveals novel genes and transcripts associated with clear cell renal cell carcinoma recurrence and immune evasion
