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 ...

Saliva is an easily accessible source of high molecular weight DNA for Oxford Nanopore long-read sequencing applications.

Government-backed population genomics projects escalate demand, while AI and long-read sequencing tech enhance data analysis ...

DNA methylation is a highly studied epigenetic modification that is involved in regulating genome function and plays fundamental roles in development and disease. 1 It is linked to a broad range of ...

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

Bacteria are among the most diverse lifeforms on Earth, so it’s no surprise that their genomes have yielded a treasure trove of fascinating discoveries. The study of bacterial genomes has led to the ...

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, ...

Researchers at the University of Toronto have invented a new method that uses DNA sequencing to measure metabolites. This enables rapid and precise analysis of biological compounds, such as sugars, ...

A whole-genome sequencing approach shows early promise over current commercial methods for identifying more patients likely ...