sequencing-based diagnostics

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."

The firm said that prior to obtaining US regulatory clearance, it's making the assay available for use as a lab-developed test by US laboratories with CLIA approvals. 

In a cohort of some 300 people with intellectual disability, a genomic approach offered a likely diagnosis some 60 percent of the time.

Molecular Autopsy Consortium of Houston members outlined their recommendations for using molecular autopsy to investigate unexplained deaths in young people. 

Six percent of patients diagnosed by exome sequencing received more than one molecular diagnosis, which can be important for their clinical management.

The life sciences company can now offer its genetic tests in all 50 states in the US, as well as Canada and several other countries. 

The 95-gene test is for detecting leukemia, myelodysplastic syndromes, and myeloproliferative disorders and can return results in less than one week.


The London School of Economics' Daniele Fanelli argues at the Proceedings of the National Academy of Sciences that the reproducibility crisis in science isn't as dire as some say.

A team of researchers in Portugal has examined the genomic basis for racing pigeons' athleticism and navigational skills, finding it's likely polygenic.

Wired reports that diagnostic firms continue to seek, post-Theranos, the ability to diagnose diseases from small amounts of blood.

In Science this week: analysis of DNA from ancient North Africans, and more.