A Snakemake-based pipeline called Pipeasm automates key steps of genome assembly, from raw read trimming through scaffolding and contamination screening, and the authors report up to 99.6% BUSCO ...

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 ...