Mendelian disorder

RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.

At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software. 

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.

Pages

Technology Review reports that researchers in the US have used CRISPR to modify a number of human embryos.

Plant researchers plan to sequence some 10,000 samples that represent the major plant clades, ScienceInsider reports.

By introducing genes from butterfly peas and Canterbury bells, researchers in Japan have developed a blue chrysanthemum, according to NPR.

In Nature this week: a Danish reference genome, and more.