Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting

Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for u...

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Bibliographic Details
Main Authors: Crockett, David K, Ridge, Perry G, Wilson, Andrew R, Lyon, Elaine, Williams, Marc S, Narus, Scott P, Facelli, Julio C, Mitchell, Joyce A
Format: Online
Language:English
Published: BioMed Central 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506914/