Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

ABSTRACT: Copy number variations (CNVs) are one of the main sources of variability in the human genome. Many CNVs are associated with various diseases including cardiovascular disease. In addition to hybridization-based methods, next-generation sequencing (NGS) technologies are increasingly used for CNV discovery. However, respective computational methods applicable to NGS data are still limited. We developed a novel CNV calling method based on outlier detection applicable to small cohorts, which is of particular interest for the discovery of individual CNVs within families, de novo CNVs in trios and/or small cohorts of specific phenotypes like rare diseases. Approximately 7,000 rare diseases are currently known, which collectively affect ∼6% of the population. For our method, we applied the Dixon's

SUBMITTER: Bansal V 

PROVIDER: S-EPMC3882271 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature