Using a priori knowledge to align sequencing reads to their exact genomic position
- The use of a priori knowledge in the alignment of targeted sequencing data is investigated using computational experiments. Adapting a Needleman–Wunsch algorithm to incorporate the genomic position information from the targeted capture, we demonstrate that alignment can be done to just the target region of interest. When in addition use is made of direct string comparison, an improvement of up to a factor of 8 in alignment speed compared to the fastest conventional aligner (Bowtie) is obtained. This results in a total alignment time in targeted sequencing of around 7 min for aligning approximately 56 million captured reads. For conventional aligners such as Bowtie, BWA or MAQ, alignment to just the target region is not feasible as experiments show that this leads to an additional 88% SNP calls, the vast majority of which are false positives (∼92%).
| URN: | urn:nbn:de:kobv:526-opus4-6407 |
|---|---|
| Publisher DOI: | https://doi.org/10.1093/nar/gks393 |
| Author: | René BöttcherORCiD, Ronny Amberg, F. P. Ruzius, V. Guryev, Wim F. J. Verhaegh, Peter Beyerlein, P. J. van der Zaag |
| ISSN: | 1362-4962 |
| Parent Title (English): | Nucleic Acids Research |
| Document Type: | Article |
| Language: | English |
| Year of Publication: | 2012 |
| Volume: | 40 |
| Issue: | 16 |
| Page Number: | 11 |
| Faculties an central facilities: | Fachbereich Ingenieurwesen / Wirtschaftsingenieurwesen (bis 8/2014) |
| Publishing Institution: | Technische Hochschule Wildau |
| Source: | René Böttcher, Ronny Amberg, F. P. Ruzius, V. Guryev, Wim F. J. Verhaegh, Peter Beyerlein, and P. J. van der Zaag Using a priori knowledge to align sequencing reads to their exact genomic position Nucl. Acids Res. (2012) 40 (16): e125 first published online May 11, 2012 doi:10.1093/nar/gks393 |
| Dewey Decimal Classification: | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
| Licence (German): | Creative Commons - CC BY-NC 3.0 - Namensnennung-Nicht kommerziell 3.0 Unported |
| Release Date: | 2016/07/06 |



