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 ...

Whole genome analysis plays a critical role in the development of life-saving diagnostics, therapeutics, and vaccines, with growing interest in noncoding regions and Whole genome analysis plays a ...

UT researchers have developed the first viable alternative to a 75-year-old method for sequencing proteins. Image of amino acids, the building blocks of proteins. Scientists at The University of Texas ...

When the COVID-19 pandemic was at its peak, and multiple variants were threatening lives around the world, scientists relied on a process called "tiled amplicon sequencing" to track the virus's spread ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...

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 ...

While next generation sequencing (NGS) has become a staple method for some researchers, it is often out of reach due to its high cost and technical challenges. To solve this problem, a novel ...

OXFORD, England, & LOS ANGELES--(BUSINESS WIRE)--Oxford Nanopore Technologies, the company behind a new generation of molecular sensing technology based on nanopores, and Plasmidsaurus, the LA-based ...