MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
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.
Using DNA to sketch crime victims might not be a great idea, the NYTimes says.
Science has its own problem with sexual harassment. What do we do with the research these abusers produce, Wired asks.
Senate Republicans led by Senator Rand Paul (R-KY) are trying to change how the government funds basic research, reports ScienceInsider.
In Science this week: combining genomics and ecology to better understand the effects of natural selection on evolution, and more.