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 ...

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

The Next Generation Sequencing (NGS) field has been in constant flux since a wave of newcomers entered the field several years ago that changed the game. The startups offered sequencing users new ...

The first resource containing high-resolution DNA sequencing data for over 37,000 children and parents collected over multiple decades from across the UK is now available to researchers worldwide. The ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...