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

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.

Source: Molecular Genetics & Genomic Medicine - July 1, 2015 Category: Genetics & Stem Cells Authors: Timothy C. Cox Tags: Invited Commentary Source Type: research