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 ...

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 ...

In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...

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 ...

A study published in the journal Science reveals how jumping fragments of human DNA, a type of genetic parasite, destabilize the cancer genome. Unstable genomes are a fertile playground for cancer ...

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

In a French criminal trial, conventional DNA analysis couldn’t distinguish between twin brothers, but emerging scientific ...

By utilizing long-read sequencing, an emerging technique that reads large sections of the genome at once, scientists at UC San Diego have revealed new genetic variants associated with autism spectrum ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...