Comprehending Copy Number Variation 2011

Copy number variations (CNVs) hold immense potential to explain genetic diversity, predict disease risk and diagnose complex genomic disorders have long resisted understanding. Now recently developed whole-genome scanning technologies have catalyzed the appreciation of CNVs in the genomic community. Studies linking insertions, deletions, and inversions to disease etiology continue to multiply. As genome-wide scanning techniques become more prevalent in diagnostic laboratories, the major challenge is how to interpret accurately which variations are pathogenic in nature and which are benign.