variants of unknown significance | GenomeWeb

variants of unknown significance

Judge Margaret Seymour held a hearing to better understand the facts of the case before deciding whether it should go forward.


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.

Experts pointed out the lack of clarity in professional standards and regulations when it comes to dealing with genetic variation in patient care. 

A high-profile, independent committee is considering the liability issues impacting labs as genetic testing increasingly becomes integrated into patient care.

The database is intended to provide the research community with a resource of control cases to aid in the evaluation of variants of unknown significance in breast cancer.

Multiple variant databases are creating competition among groups that disagree on how to advance the most scientifically robust and sustainable sharing model.

It is now up to Margaret Seymour, a senior judge in US District Court in the District of South Carolina, whether Williams' case should be dismissed or decided by a jury.

The affidavit from pediatric neurologist Max Wiznitzer is part of a plan by Amy Williams' lawyers to convince the court to take up their client's case.

In response to the plaintiff's amended complaint, Quest and Athena have filed a new motion to dismiss making similar arguments focused on statute of limitations and repose.

The addition of certain kinds of information could help clinical labs determine whether variants of uncertain significance are pathogenic or benign.

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In PLOS this week: nasal microbial communities in asthma patients; sequencing-based way to detect, track schistosomiasis; and more.

The New York Times speaks with Vanderbilt's John Anthony Capra about Neanderthal genes in modern humans.

A draft guidance from the FDA suggests the agency wants to more tightly control gene-edited animals, according to Technology Review.

Researchers were among this weekend's protesters bemoaning the new US administration, Vox reports.