variant classification

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.

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.

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While gene therapies may have high price tags, they could be cheaper than the cost of managing disease, according to MIT's Technology Review.

Researchers are looking for markers that indicate which cancer patients may respond to immunotherapies, the Associated Press writes.

In Nature this week: paternal age associated with de novo mutations in children, and more.

Nature News writes that researchers are still wrangling over the role of the p-value.