The assay detects a mutation that can confer hearing loss in patients, particularly neonates, who have taken gentamicin, an antibiotic prescribed for certain bacterial infections.
The effort is already bearing fruit, as the team has been able to validate several variants known to be connected with adverse drug reactions.
At last week's ESHG annual meeting, three quality assessment providers discussed best practice guidelines and results from a pilot NIPT quality assessment scheme.
At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software.
The SeqStudio instrument, which has a list price of $57,000, uses a click-in cartridge with four capillaries that comes pre-loaded with polymer and buffer.
Paralogs may compensate for a mutated gene in tissues other than the disease-affected ones, researchers from Ben-Gurion University of the Negev in Israel found.
The company launched an updated version of its Face2Gene software suite earlier this month at the American Society of Human Genetics annual meeting.
The results were presented at the ESHG meeting in Scotland this weekend and could potentially influence how NIPT is offered in those countries.
The groups acknowledge the value in NIPT, but recommend against expanding testing for sex chromosomal aneuploidies and microdeletions.
The European Society for Human Genetics has issued recommendations for laboratories performing clinical whole-genome sequencing.
In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.
Though many details have yet to be worked out, the draft deal for the UK's withdrawal from the EU is giving researchers some hints for what they can expect, Nature News says.
DNA testing has solved a 100-year-old mystery contained in the skull and teeth samples of a now-extinct monkey that once inhabited Jamaica, Gizmodo reports.
As the UN ponders a ban on gene drives, one malaria researcher says there are less dramatic ways to fight the disease in Africa than unleashing GM mosquitoes on a whole continent.