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Cartagenia's BenchLab NGS

Cartagenia has upgraded its Bench Lab NGS software to enable laboratories to implement the recently released ACMG/AMP recommendations for standards and guidelines on the interpretation of sequence variants. 

According to the company, Bench Lab NGS now includes a framework for labeling and scoring variants based on the criteria and levels of evidence in the ACMG paper. Labs can also put together a variant assessment pipeline that represents their own implementation of the ACMG guidelines.

The Scan

Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

A pan-cancer paper appearing in JCO Precision Oncology suggests tumor mutation patterns provide clues for predicting cancer survival that are independent of other prognostic factors.

Australian Survey Points to Public Support for Genetic Risk Disclosure in Relatives of At-Risk Individuals

A survey in the European Journal of Human Genetics suggests most adult Australians are in favor of finding out if a relative tests positive for a medically actionable genetic variant.

Study Links Evolution of Stony Coral Skeleton to Bicarbonate Transporter Gene

A PNAS paper focuses on a skeleton-related bicarbonate transporter gene introduced to stony coral ancestors by tandem duplication.

Hormone-Based Gene Therapy to Sterilize Domestic Cat

A new paper in Nature Communication suggests that gene therapy could be a safer alternative to spaying domestic cats.