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. 

Thermo Fisher Scientific: Applied Biosystems SeqStudio Genetic Analyzer

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.

A study of clinical geneticists in Europe found large percentages think some DTC genetic tests should require medical supervision or should be banned.


360Dx reports that the US Centers for Medicare & Medicaid Services would cover next-generation sequencing-based cancer panel tests.

The Washington Post reports that a meteorologist is being considered as presidential science and technology advisor.

In PNAS this week: precision medicine strategy to screen for disease risk, genome evolution in Haemophilus influenzae, and more.

Researchers have developed a PCR-based assay to gauge whether manatees are present in waters.