How AI is sequencing the genomes of all known living species on Earth By Abhimanyu Ghoshal November 11, 2025 Sequencing a genome today involves recording and assembling data with a high degree of ...

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 ...

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

Dozens of health systems representing millions of patients across the United States are collaborating with the Truveta Genome Project, Regeneron Genetics Center and genomic sequencing company Illumina ...

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 ...

At first her doctor wasn’t too concerned; some newborns have seizures. But Sebastiana’s kept coming every few hours. And the ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.