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 ...

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 ...

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, ...

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 ...

What is Third-Generation Sequencing? Third-generation sequencing, also known as long-read sequencing, refers to the latest advancements in DNA sequencing technologies that enable the analysis of ...

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 ...

The power of artificial intelligence (AI) and advanced computing has made it possible to design genetic sequences encoding ...

SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means ...

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 ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...