Utility and limitations of animal models for the functional validation of human sequence variants

August 3, 2015

Cox, T. C. (2015), Utility and limitations of animal models for the functional validation of human sequence variants. Molecular Genetics & Genomic Medicine. doi: 10.1002/mgg3.167

Abstract
One of the biggest challenges facing us in this new age of genomic medicine is the functional validation of variants identified in exome / whole genome sequencing approaches. This article highlights the often difficult decisions we must face when confronted by a list of variants from genome-scale sequencing data and some key points to consider when deciding how to best test and validate, using animal models, any given variant as pathogenic.