ClinBioNGS is a modular, fully containerized workflow implemented in Nextflow. It supports integrated analysis of DNA and RNA data, including multicaller small variant detection, copy number ...

Alternative splicing promises to help resolve the question of how 25,000 genes could possibly be enough to encode instructions for a huge range of specialized human cells from osteoplast to neuron.

Transcribe, splice, and everything’s nice—at least in healthy people. Scientists are finding that abnormal splicing, and genetic variants that cause it, may kickstart some neurodegenerative diseases.

Study design to create a database of transcripts, called TRAILS (TRAnscriptomic resource of Immune cells using Long-read Sequencing), from different human immune cell subsets and downstream analysis.

Tokyo Medical and Dental University (TMDU) researchers harness long-read RNA sequencing to decode genetic intricacies and disease links. Alternative splicing, a process where a single gene can give ...

In a new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia. Subscribe to our newsletter for the latest sci-tech ...

Patients with germline pathogenic variants (PVs) in APC develop tens (attenuated familial adenomatous polyposis [AFAP]) to innumerable (classic FAP) adenomatous polyps in their colon and are at ...