news.ucsc

Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses

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 ...

RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...
National Academies of Sciences%2c Engineering%2c and Medicine

Toward Sequencing and Mapping of RNA Modifications

RNA plays critical roles in nearly all biological processes, but current methods for sequencing RNA are significantly limited. This is partially because RNA molecules are chemically modified within ...
GEN

The Time Is Right for Single-Cell Genomics: Next-Generation Sequencing Has Enabled the Single-Cell Multiomics Revolution

There is a revolution taking place in the field of genomics. Next-generation sequencing (NGS) is getting faster and less expensive with better computational tools, enabling researchers to sequence ...
News-Medical.Net

New RNA sequencing method improves rare disease diagnosis

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...