variant classification

The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.

Fabric disclosed partnerships with Rady Children's Institute for Genomic Medicine, the Utah Genome Project, and Genomics England's 100,000 Genomes Project.

Israeli genomic analysis startup Genoox hopes to lower the barrier to entry for next-generation sequencing, making it accessible to non-academic centers.

Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.

Two speakers at the National Society of Genetic Counselors annual meeting discussed how often genetic variants are reclassified and how that affects patients.

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.

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Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.