RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by developmental delay.

Research underscores clinical utility of RNA sequencing in providing critical insights to drive diagnoses and medical ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...

ETH Zurich scientists have created “MetaGraph,” a revolutionary DNA search engine that functions like Google for genetic data. By compressing global genomic datasets by a factor of 300, it allows ...

By examining genomic variation more closely, scientists can now identify new disease connections with greater speed and accuracy. For centuries, scientists have recognized that certain illnesses can ...

Plasmidsaurus, the leading global Sequencing as a Service company, today announced the launch of its new RNA-Seq service.

Researchers have uncovered genetic elements that drive the rapid development of marsupials' facial features.

Roche’s SBX sequencing achieved a world record for the fastest human genome analysis and is driving breakthroughs in ...