Detection of Copy Number Variation using Shallow Whole Genome Sequencing Data to replace Array-Comparative Genomic Hybridization Analysis

Abstract

This report is made as part of the Master's Thesis project of the master Computer Science, track Bioinformatics at the Delft University of technology. The main focus of this document lies on the paper that is written as the result of my research on the detection of copy number variations using next generation sequencing data. In the future it is likely that next generation sequencing techniques will replace the current array-comparative genomic hybridization technique that is currently used in clinics. For next generation sequencing data to replace this technique, the minimal coverage required for competitive detection should be known; this was the focus of my work. Besides the main paper, a supplement is provided to give some additional information about the research that was done. A work document is also included, in this document the progress and observations made during the project are registered. The Master's thesis project was done at the Bioinformatics Lab at Delft University of Technology in collaboration with the department of Clinical Genetics of the VU Medical Center in Amsterdam.