Close Menu

Mendelian disorder

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.

The panels yielded a diagnosis for 43 percent of more than 2,300 patients, at a cost between $75 and $150 per panel.

Researchers involved with the WGS500 study reported on findings from more than 150 clinical cases assessed by whole-genome sequencing.

The results, published online in Genome Research last month, suggest that whole-genome sequencing may be able to boost the diagnostic rate of clinical exome sequencing.

Pages

A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.