Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Enhancer hijacking emerges as a major “missing driver” mechanism in LBCL/PCN, enabling detection of non-chimeric oncogene activation such as IGL::BCL2, IGH::CCND2, and MAFA/MAFB rearrangements.

The researchers deeply sequenced five head and neck squamous carcinomas, four lung squamous carcinomas, and one colorectal adenoma.

By Hugo Francisco de Souza Trained on genomic data spanning the tree of life, Evo 2 reveals how artificial intelligence can ...

Fifth-class students at St Matthew's National School, Ballymahon recently marked Rare Disease Awareness Day by showing solidarity and support for one their class-mates.

Company’s exhibit theater presentation will highlight multiomic and multimodal innovations in rare disease diagnostics ...

The arterial vasculature is the second most frequently calcified structure in the human body after the skeleton. Calcification of the aorta and aortic valves occurs in most individuals in westernized ...

This study provides valuable insights into the protein composition of the C2a projection in mouse motile cilia, building upon prior work in Chlamydomonas. The evidence supporting the claims of the ...

This manuscript describing the phenotypes associated with loss and gain of RVCL-S documents important findings that have practical implications. Although the data and methods are solid and support ...