In a single experiment, scientists can decipher the entire genomes of many patient samples, animal models, or cultured cells.

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 ...

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

April 14, 2025 – Genome Research (https://genome.org) publishes a second special issue highlighting advances in long-read sequencing applications in biology and medicine. In this second Special Issue, ...

Scientists sequence hundreds of thousands of genomes for crucial large-scale research efforts, such as population genomics initiatives that process more than 10,000 samples per year, to explore ...

Breakthroughs, discoveries, and DIY tips sent six days a week. Terms of Service and Privacy Policy. In 1976, workers excavating a tunnel for the Toronto subway system ...

In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...