variants of unknown significance
Labs, Doctors Still Grapple With Patient Recontact Despite Streamlined Variant Reclassification
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Although leading labs have coalesced around the value of protocols for making sure updated variant calls get to patients, strategies still vary and practical challenges remain.
Genomenon Partners With Pharming to Improve Diagnosis of Rare Immunodeficiency Syndrome
The partners will release curated variant data on two genes associated with activated PI3K delta syndrome (APDS) into Genomenon's Mastermind Genomic Intelligence Platform.
At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.
The firm's test for Lynch Syndrome determines the presence of variants in the DNA mismatch repair pathway.
New ESHG Recommendations for Clinical Whole-Genome Sequencing Show Differences From US Guidelines
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Previous guidelines for clinical NGS, published by the society in collaboration with EuroGenTest in 2016, focused mainly on whole-exome sequencing.