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sequencing-based diagnostics

Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.

Centogene said it will conduct molecular diagnostic testing using deletion/duplication analysis and full-length sequencing of the DMD gene.

New funding will support assay development and lab space to offer test services, and ultimately a test kit using the firm's resistance database.

The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.

The firm will use the funds to continue its commercialization plans for the Unyvero diagnostic test cartridges and instruments.

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. 

Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.

The companies will share bioinformatics and NGS expertise to speed the identification of diseases, accelerate drug discovery, and find "genomic shields."

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Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.

St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.

St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.

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.