Mendelian disorder | GenomeWeb

Mendelian disorder

The team is making several improvements to its MyGene2 platform portal in an attempt to encourage open sharing of genomic data.

Using exome sequence and phenotyping data for individuals from longitudinal population studies, investigators began parsing pathogenic mutation effects in the genes.

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.

Pages

In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.