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Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.

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. 

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.

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The Lancet and the New England Journal of Medicine have retracted two COVID-19 papers due to concerns about the data used in their analyses.

A new study finds that three dimensional facial scans may be able to aid in diagnosing rare genetic diseases.

Lawmakers plan to introduce a bill that aims to prevent the theft of US-funded research, according to the Wall Street Journal.

In Science this week: analysis of ancient Caribbean islanders' genomes suggests at least three waves of migration into the region,  DNA barcoding of microbial spores, and more.