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 ...

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 idea for the LRGASP Consortium was originally discussed among scientists at a conference in 2019.

This image compares three DNA sequencing technologies: Sanger sequencing, Massively Parallel DNA sequencing, and Nanopore DNA sequencing. Sanger sequencing (left) sequences 500-700 bases per reaction ...

“We’re only just beginning to understand the full majesty of life on Earth,” wrote the founding members of the Earth BioGenome Project in 2018. The ambitious project raised eyebrows when first ...

NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...

The Internet has Google. Now biology has MetaGraph. Detailed today in Nature, the search engine can quickly sift through the staggering volumes of biological data housed in public repositories. “It’s ...

Whether you’re interested in why a living system works as it does or the reasons it goes awry, proteins are a critical part of the molecular picture. The proteins circulating in a person’s plasma can ...