In a PrecisionFDA challenge, DeepVariant calls of PacBio HiFi reads topped 99 percent precision and recall for SNVs and indels, bringing HiFi in line with Illumina.
Following a lengthy discovery period, the lab is asking a South Carolina federal district court to find in its favor and decide that its negligence did not result in the death of Williams' son.
The Wall Street Journal reports that the American College of Medical Genetics and Genomics has called on Myriad Genetics and others to share the genetic data they have amassed.
In seven years, the public variant classification database has steadily become a resource that labs are submitting to and that genetics experts are consulting.
With a $3.7 million NIH grant, database developers hope to garner FDA recognition, develop a new user interface, and further integrate its use in cancer care.
The researchers estimated that addition of RNA-based testing could benefit about 1 in 43 individuals undergoing hereditary cancer predisposition genetic testing.
