Another interesting paper based on UK biobank and AllOfUs data. It's not only Huntington's disease caused by repeat expansion. doi.org/10.1038/s415...

Why do you find it so cool?

Comprehensive genome analysis and variant detection at scale using DRAGEN - Nature Biotechnology DRAGEN rapidly identifies diverse types of genetic variants.

Illumina's Dragen covers numerous aspects of genome analysis and variant detection. Impressive to read about their comprehensive pipeline: doi.org/10.1038/s415...

It was the "Komplette LP" (complete long playing record) in Austria's radio magazine "Musicbox" in June 1983. Living in the south of Austria, I was 14 years old when I bought it in Hamburg during our camper van holidays.

Pre-symptomatic Parkinson’s disease blood test quantifying repetitive sequence motifs in transfer RNA fragments - Nature Aging Madrer et al. identify a Parkinson’s disease–specific increase in transfer RNA (tRNA) fragments in human blood, cerebrospinal fluid and postmortem brain tissue, demonstrating the ability of blood-base...

Parkinson's disease (PD) could be detected by a simple blood test: Even before the first symptoms elevated levels of PD-specific transfer RNA fragments can be found.
doi.org/10.1038/s435...

Baby genomics: newborn sequencing starts to fulfill its promise - Nature Biotechnology Genome sequencing in newborns is delivering insights into severe genetic diseases not afforded by traditional tests, but integrating genomics into newborn screening remains a logistics and cost challe...

Detecting genetic diseases after birth helps to start treatment earlier. As a side effect, it might disclose real fatherhood. Correct, Svante Pääbo?
doi.org/10.1038/s415...

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases - Genome Medicine Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genet...

The quick diagnosis of rare genetic diseases from DNA sequencing data is crucial. The fully automated analysis (from a vcf-file) is just a matter of minutes to an hour. Nice work by Fabric Genomics and the Rady Children’s hospital:
doi.org/10.1186/s130...

Dendritic cells can prime anti-tumor CD8+ T cell responses through major histocompatibility complex cross-dressing Although antigen cross-presentation is important for DCs to orchestrate anti-tumor CD8+ T cell responses, the role of alternative antigen presentation pathways is unclear. MacNabb et al. show that CD8+ T cell priming can be mediated by DCs that acquire and present tumor-derived MHC-I complexes—a phenomenon known as MHC cross-dressing.

This great paper sheds light on a mechanism in cancer immunity.
MHC-I cross-dressing is crucial for anti-tumor CD8+ T cell priming by DCs. www.cell.com/immunity/ful...

The Neo-Open Reading Frame Peptides That Comprise the Tumor Framome Are a Rich Source of Neoantigens for Cancer Immunotherapy Identifying immunogenic cancer neoantigens for cancer vaccine design is challenging. The authors uncover NOPs as a widespread source of neoantigens derived from structural genomic variants and indels....

Just read (again) the cancer antigen discovery paper by CureVac's bioinformatics group. Using complementary Oxford Nanopore sequencing in addition to the Illumina RNA- and DNA-Seq brings up new and different potential antigens, in contrast to using TCGA/GTEx alone.
doi.org/10.1158/2326...

Along the way to better Large Language Models: blog.wernitznig.com/football-gam...

The present and future of the Cancer Dependency Map - Nature Reviews Cancer The Cancer Dependency Map (DepMap) is a data repository and research platform that can be utilized to systematically identify cancer vulnerabilities. Here Arafeh, Shibue et al. outline the current lim...

As a frequent user of depmap.org, I am impressed about the outstanding achievements summarized in this Nature Reviews cancer article: doi.org/10.1038/s415...