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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.