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variant classification

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. 

The public-private partnership has published a paper on a list of indels larger than 50 bp that is already being used to develop new methods.

Invitae said YouScript and Genelex will enable it to provide pharmacogenomic testing, while Diploid will help interpret WGS results.

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.

Call to Share

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.

This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.

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.

The firm hopes to return fewer VUS in its test reports and to accelerate the resolution of uncertain results issued to patients in that past.

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Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.