Open AccessUtility and limitations of animal models for the functional validation of human sequence variants
Author(s) -
Cox Timothy C.
Publication year - 2015
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.167
Subject(s) - causation , data science , exome , computational biology , exome sequencing , computer science , genomics , genome , biology , genetics , gene , phenotype , political science , law
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.