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variant classification

Laboratories that purchase PGDx Elio genomic profiling tests will receive access to Qiagen's QCI Interpret One for rapid, evidence-based variant interpretation.

The deal builds on a non-exclusive partnership signed in January 2019 and PierianDx will now support three more Illumina cancer sequencing assays.

The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.

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.

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Politico notes that the Biden Administration has not yet nominated a permanent Food and Drug Administration commissioner. 

Anthony Fauci also informed the World Health Organization executive board that the US would be joining the COVAX initiative, according to CNBC.

A new preprint suggests some SARS-CoV-2 variants could affect the effectiveness of current vaccines, the Associated Press reports.

In Nature this week: Australian lungfish provides details on the movement of vertebrate life from water to land, and more.