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Mendelian disorder

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.

The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.

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Google's Project Nightingale has collected health information on millions of Americans, according to the Wall Street Journal.

An opinion piece at The Hill criticizes the proposed plan to collect DNA samples from migrants at the US border.

Nature News writes that women in chemistry are less likely to have their manuscripts accepted for publication.

In PNAS this week: tRNA fragment signature for chronic lymphocytic leukemia, genomic sites sensitive to ultraviolet radiation in melanocytes, and more.