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

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 ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to ...

Living with a rare disease often means years of uncertainty, misdiagnosis, and limited treatment options. But advances in ...

Ultima Genomics, Inc., a developer of ultra-high-throughput sequencing systems, today announced that Basecamp Research, a frontier AI lab for therapeutic design, has selected the UG200 Series as the ...

Oxford Nanopore Technologies, the company delivering a new generation of molecular sensing technology based on nanopores, and ...

Foundation Medicine, Inc., a global precision medicine company, today announced the launch of its Whole Genome Sequencing (WGS) Germline test for research use. This important portfolio expansion is ...

Scientists at Royal Botanic Gardens Victoria, Australia have described two new species of fungi, Peziza austroechinospora and Peziza meridionalis with the assistance of DNA sequencing, highlighting ...