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Mendelian disorder

Three papers published this week offer fine-grained detail about the Exome Aggregation Consortium's analysis and methods, showing the data's value in a specific use case.

The partners will evaluate various established research solutions including a number of variant calling methods for potential clinical use.

Diploid is focusing first on CNV analysis, annotation, and interpretation and plans to launch at least one more product for the space this year. 

Work from researchers at Charité in Berlin shows that facial dysmorphology analysis technology may increase the diagnostic rate of exome sequencing.

In a pilot study published in AJHG, nine labs initially agreed for only 34 percent of variants, but for 71 percent after discussing the evidence and use of guidelines in detail.

Over the last half year, CeGaT lowered turnaround times and prices for its assays, and its lab recently passed CAP inspection.

The test, which EGL plans to launch clinically this summer, is designed to boost diagnostic yield by helping to resolve variants of unknown significance.

By analyzing genomic data from nearly 590,000 apparently healthy individuals, researchers uncovered 13 carriers of serious Mendelian disease mutations.

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

The company's platform offers space and computational tools for exploring, sharing, and storing genomic data in the context of genetic disorders.

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

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.

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.