variant classification | GenomeWeb

variant classification

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.

In Genome Biology this week: comparative genomics study of Aspergillus, genetic variation in indigenous African cattle, and more.

Some people who harbor genetic variants associated with disease show no signs and may give insight into the continuum of symptoms, Spectrum reports.

Some 57 snow monkeys at a Japanese zoo were found to be rhesus macaque hybrids, which are banned in Japan.

British researchers say they've been removed from EU grant applications, according to the Guardian.