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Free the Data: One Laboratory's Approach to Knowledge‐Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
Author(s) -
Bean Lora J.H.,
Tinker Stuart W.,
Silva Cristina,
Hegde Madhuri R.
Publication year - 2013
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22364
Subject(s) - data sharing , interface (matter) , biology , genomic information , software , computational biology , precision medicine , data integration , computer science , component (thermodynamics) , data science , bioinformatics , data mining , genetics , genome , gene , medicine , pulmonary surfactant , biochemistry , gibbs isotherm , alternative medicine , physics , pathology , programming language , thermodynamics
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large proportion of sequence variants identified in individuals with clinical features of a genetic disorder remain unpublished.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 E mory G enetics L aboratory'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, E m VC lass, is a W eb‐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.