Publications

Long-read sequencing

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

A national pilot study in Sweden demonstrates that HiFi Revio long-read genome sequencing enables precise digital karyotyping of structural variants, supporting a proposed 5-year expansion in rare disease diagnostics. (Eisfeldt et al, Genome Res 2024: PMID 39472022)

Multiomics

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

The first Undiagnosed Hackathon united global experts for 48 hours, diagnosing 40% of unresolved cases, showcasing the impact of advanced genomics, collaborative expertise, and patient involvement in precision diagnostics. (Delgado-Vega et al., Nat Genetics 2024; PMID: 39433890)

Ultrasensitive detection

Patient-Specific Measurable Residual Disease Markers Predict Outcome in Patients With Myelodysplastic Syndrome and Related Diseases After Hematopoietic Stem-Cell Transplantation

In MDS patients undergoing HSCT, individualized MRD monitoring via NGS and ddPCR enables early relapse detection. Positive MRD strongly predicts shorter relapse-free and overall survival, supporting preemptive intervention strategies. (Tobiasson et al., J Clin Oncol. 2024; PMID: 39232336)

Single Cell & Spatial omics

In vivo dendritic cell reprogramming for cancer immunotherapy

Researchers reprogrammed tumor cells into antigen-presenting dendritic-like cells using adenoviral transcription factors, triggering robust T cell responses and lasting immunity in melanoma models, offering a novel direction for cancer immunotherapy. (Ascicet al., Science 2024; PMID: 39236156)