Researchers found that functional assays could improve the classification of cystic fibrosis-related missense variants with variable disease expressivity.
Australian researchers call for carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy, Cosmos reports.
Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.
The multiplexed PCR kit will target mutations associated with cystic fibrosis that are highly prevalent in the US, and the firm is also eyeing the Middle East and Africa.
Under the terms of the deal, Fluidigm has the right to commercialize the CFTR sample prep assay for research use on its Juno automated microfluidic system.
Agena's cystic fibrosis panel includes more than 70 mutations in the CFTR gene that have been linked to the disease.
In Genome Research this week: longitudinal study of Burkholderia cenocepacia isolates from cystic fibrosis patients, long-read assembly approach, and more.
Artificial tRNAs may allow cells to read through premature stop codons and treat genetic diseases, New Scientist reports.
A sequencing study suggests multidrug-resistant Mycobacterium abscessus bacteria are often passed between people, not acquired from the environment.
Couples can now buy cystic fibrosis and spinal muscular atrophy carrier screening tests through Amazon, though a doctor will have to approve the order.
Lawmakers have asked four direct-to-consumer genetic testing companies to explain their privacy policies and security measures, according to Stat News.
The Trump Administration has proposed a plan to reorganize the federal government, the Washington Post reports.
In Science this week: genetic overlap among many psychiatric disorders, and more.
The Economist writes that an increasing number of scientific journals don't do peer review.