Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed ...

DNA is the blueprint of life. Genes encode proteins and serve as the body's basic components. However, building a functioning ...

The Epstein-Barr virus (EBV) can cause certain types of cancer or autoimmune diseases, but how the body controls this common viral infection is largely unknown. Researchers at the University Hospital ...

This image compares three DNA sequencing technologies: Sanger sequencing, Massively Parallel DNA sequencing, and Nanopore DNA sequencing. Sanger sequencing (left) sequences 500-700 bases per reaction ...

Cornell researchers have found that a new DNA sequencing technology can be used to study how transposons move within and bind to the genome. Transposons play critical roles in immune response, ...

PacBio has announced a new study published in Nature Communications that presents an innovative method for analyzing complex regions of the human genome, particularly segmental duplications that have ...

BOSTON--(BUSINESS WIRE)--Variantyx, a leader in high complexity hereditary disease testing, today announced that they secured $20M in funding for their Whole Genome Sequencing (WGS)-based testing ...

Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide ...

A combined whole-genome sequencing approach could be used to detect and monitor cancer from liquid biopsies. It is challenging to monitor cancer from liquid biopsies due to the low concentrations of ...