Background. Next-generation sequencing produces high-throughput data, albeit with greater error and shorter reads than traditional Sanger sequencing methods. This complicates the detection of genomic variations, especially, small insertions and deletions. Findings. Here we describe ParMap, a statistical algorithm for the identification of complex genetic variants, such as small insertion and deletions, using partially mapped reads in nextgen sequencing data. Conclusions. We report ParMap's successful application to the mutation analysis of chromosome X exome-captured leukemia DNA samples.
All Science Journal Classification (ASJC) codes
- Biochemistry, Genetics and Molecular Biology(all)