Mendelian disorder | GenomeWeb

Mendelian disorder

Genomiser correctly prioritized causal variants in as much as 68 percent of experimental cases, improving on numbers from comparable tools like Phen-Gen.

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.


In Nature this week: genetic history of HIV in the US, and more.

There are a few projects aimed at addressing the lack of diversity in genomic research, Technology Review reports.

A national assessment shows that US students lag in the sciences, but suggests that achievement gaps are narrowing.

Harvard's George Church discusses HGP-write with the Journal of the American Medical Association.