Cartagenia's BenchLab NGS
Mar 20, 2015
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.