Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.
The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.
The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.
Victorian Clinical Genetics Services is one of two partners in Acute Care Genomics, which is testing DNA from critically ill infants and kids across Australia.
Avalon said that it will collaborate with genomic sequencing and PCR firm Da An Gene to accelerate exosome diagnostic product development and commercialization.
The companies will share bioinformatics and NGS expertise to speed the identification of diseases, accelerate drug discovery, and find "genomic shields."
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
