作者: Aatira Vijay , Iti Garg , Mohammad Zahid Ashraf , None
关键词:
摘要: Human genome contains many variations, often called mutations, which are difficult to detect and have remained a challenge for years. A substantial part of the encompasses repeats when such in coding region they may lead change gene expression profile followed by pathological conditions. Structural variants alterations one or more sequence feature chromosome as copy number, rearrangements, translocations can be balanced unbalanced. Copy number (CNVs) increase decrease copies given pivotal role onset diseases including cardiovascular disorders. Cardiovascular disorders magnitude well-established risk factors etiology, but their correlation with CNVs is still being studied. In this article, we discussed history summary on associated CNVs. To shed light techniques introduced so far limitations. The lack studies determine frequency needs clinical larger cohorts. This review compilation articles suggesting importance multitude anomalies. Finally, future perspectives better understanding also been discussed.