title: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.
abstract: Current technology allows clinical laboratories to rapidly translate research discoveries from small patient cohorts into clinical genetic tests; therefore, a potentially large proportion of sequence variants identified in individuals with clinical features of a genetic disorder remain unpublished. Without a mechanism for clinical laboratories to share data, interpretation of sequence variants may be inconsistent. We describe here the two components of Emory Genetics Laboratory's (EGL) in-house developed data management system. The first is a highly curated variant database with a data structure designed to facilitate sharing of information about variants identified at EGL with curated databases. This system also tracks changes in variant classifications, creating a record of previous cases in need of updated reports when a classification is changed. The second component, EmVClass, is a Web-based interface that allows any user to view the inventory of variants classified at EGL. These software tools provide a solution to two pressing issues faced by clinical genetics laboratories: how to manage a large variant inventory with evolving variant classifications that need to be communicated to healthcare providers and how to make that inventory of variants freely available to the community.
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.
authors.forename: Lora J H
authors.initials: LJ
authors.lastname: Bean
authors.forename: Stuart W
authors.initials: SW
authors.lastname: Tinker
authors.forename: Cristina
authors.initials: C
authors.lastname: da Silva
authors.forename: Madhuri R
authors.initials: MR
authors.lastname: Hegde
mesh_terms: D003628:Database Management Systems; D030541:Databases, Genetic; D023281:Genomics; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D051188:Knowledge Bases; D012984:Software
keywords: bioinformatics; clinical genetics; mutation; mutation database; variant classification