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

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...

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...

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...

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...

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...

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...