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 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 ...
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 ...
To many, the genome is a puzzle—a many-sided puzzle whose meaning stretches across your life, your children's, and your family's. To many, the genome is a puzzle—a many-sided puzzle whose meaning ...
NIH funding has allowed scientists to see the DNA blueprints of human life—completely. In 2022, the Telomere-to-Telomere Consortium, a group of NIH-funded scientists from research institutions around ...
Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.
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 ...
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 ...