Metabolic Phenotypes in the ClinGen Repositories
Karen Eilbeck1, Donna Maglott2, Melissa Landrum2, Sara Velden3, MarziaPasquali3, Elaine Lyon3, Nicole Ruiz1, William Craigen4, Robert Steiner5, Michael Murray6, David T. Miller7, Rong Mao3
Background
Data sharing and reuse is a goal of clinical variant databases such as the NCBI’s ClinVar database. To achieve this, the data-model and data-dictionary rely heavily on the use of controlled vocabularies, established nomenclatures and terminologies to define the data entered. Defining metabolites is emerging as an area of development for the database in order to adequately capture the clinical findings necessary to support the interpretation of inborn errors of metabolism. The ClinGen clinical domain working group for metabolic disorders have focused on PKU and MCAD to explore this domain, and were assisted by the ClinGen Phenotype Working Group and the ClinGen IT/Data Standards working group.
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