variant classification

The list is intended to provide ClinVar a level of assurance about the quality of variant classification data submitted by clinical labs.

A Brazilian team has developed an open-source software tool called Mendel,MD that annotates sequencing data to identify candidate disease-causing mutations.

Researchers compared three open source annotation tools, and also looked at correspondence with public databases, identifying a number of stumbling blocks.

The collaborations aim to combine Illumina's sequencing systems with Philips' IntelliSpace Genomics platform and with IBM's Watson for Genomics, respectively.

The combined product includes Edico’s Dragen bioinformatics processor integrated into a Dell server, as well as Dell EMC’s Isilon storage.

The recommendations were developed by a working group of the AMP Clinical Practice Committee that included representatives from ACMG, ASCO, and CAP.

ClinGen's cancer somatic working group hopes the adoption of its Minimal Variant Level Data (MVLD) framework will facilitate data exchange between institutions and help with variant interpretation.

In a new AMP working group project, labs can volunteer to compare their interpretation of challenging variants to help identify where and how the guidelines might be improved.

The gnomAD collection contains consistently called variant data for more than 126,000 diverse exomes and more than 15,000 whole-genome sequences.

Helix customers can purchase apps that interpret different aspects of their genome, Technology Review reports.

The New York Times reports that a number of companies and research institutes are pursuing gene therapies.

Salmon with shorter telomeres survive to make the trip back to their river homes, New Scientist reports.

In PLOS this week: vaginal microbiome composition, population patterns of Chagas-carrying Rhodnius ecuadoriensis, and more.