Multi-perspective quality control of Illumina exome sequencing data using QC3.

摘要: Advances in next-generation sequencing (NGS) technologies have greatly improved our ability to detect genomic variants for biomedical research. The advance NGS has also created significant challenges bioinformatics. One of the major is quality control data. There been heavy focus on performing raw data control. In order correctly interpret DNA data, however, proper should be conducted at all stages analysis: alignment, and variant detection. We designed QC3, a tool aimed those three sequencing. QC3 monitors metrics each stage provides unique independent evaluations from different perspectives. offers features such as detection batch effect cross contamination. its source code are freely downloadable https://github.com/slzhao/QC3.