GEnomes Management Application ( A New Software Tool for Large-Scale Collaborative Genome Analysis

Michael A. Gonzalez, Rafael F.Acosta Lebrigio, Derek Van Booven, Rick H. Ulloa, Eric Powell, Fiorella Speziani, Mustafa Tekin, Rebecca Schüle, Stephan Züchner

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


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 (, a software tool to annotate, manage, visualize, and analyze large genomic datasets (">"> currently contains ~1,600 whole exomes from 50 different phenotypes studied by 40 principal investigators from 15 different countries. The focus of is on user-friendly analysis for nonbioinformaticians to make next-generation sequencing data directly accessible. Yet, provides powerful and flexible filter options, including single family filtering, across family/phenotype queries, nested filtering, and evaluation of segregation in families. In addition, the system is fast, obtaining results within 4 sec across ~1,200 exomes. We believe that this system will further enhance identification of genetic causes of human disease. The web-based tool Genomes Management Application is used in 15 different countries and provides easy to use yet powerful and fast analysis over hundreds of exomes.

Original languageEnglish (US)
Pages (from-to)842-846
Number of pages5
JournalHuman mutation
Issue number6
StatePublished - Jun 2013


  • Exome sequencing
  • Next-generation sequencing
  • Next-generation sequencing analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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