whole-genome sequencing

In a journey that spanned the genomes of more than 150,000 Icelanders, archival samples, and a fetus in utero, researchers not only identified genetic variants missing from the population, but also proved that these missing mutations cause three rare genetic diseases.

Researchers discover how malignant rhabdoid tumors begin, and identify potential treatments

The companies are aiming to develop a new production-scale platform to expand clinical adoption of whole-genome sequencing

Weill Cornell Medicine and partners announce initiative to sequence the genomes of thousands of participants to assess whole-genome sequencing's diagnostic potential