Activity 1. Design of variant assessment procedures.To allow clinical and research laboratories alike to classify human genetic variants of all kinds and from all sources in a scalable, robust and automated manner, one key short-term scientific objective is to design and build a variant assessment tool. This tool is freely available to project participants and periodic


We are confident this project will produce a wide range of sustainable benefits affecting many aspects of genomic medicine, clinical and basic research, patient advocacy, routine clinical care, and public health policy. Following are the main pieces of evidence we wish to cite in support of our project benefits:1. Project offers solutions to widely acknowledged