GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.

ABSTRACT: Novel genes are now identified at a rapid pace for many Mendelian disorders, and increasingly, for genetically complex phenotypes. However, new challenges have also become evident: (1) effectively managing larger exome and/or genome datasets, especially for smaller labs; (2) direct hands-on analysis and contextual interpretation of variant data in large genomic datasets; and (3) many small and medium-sized clinical and research-based investigative teams around the world are generating data that, if combined and shared, will significantly increase the opportunities for the entire community to identify new genes. To address these challenges, we have developed GEnomes Management Application (GEM.app), a software tool to annotate, manage, visualize, and analyze large genomic datasets (https://

SUBMITTER: Gonzalez MA 

PROVIDER: S-EPMC4345138 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature