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.
