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.
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.
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.
