Genome assembly forensics: finding the elusive mis-assembly
Open Access
- 14 March 2008
- journal article
- software
- Published by Springer Nature in Genome Biology
- Vol. 9 (3) , 1-13
- https://doi.org/10.1186/gb-2008-9-3-r55
Abstract
We present the first collection of tools aimed at automated genome assembly validation. This work formalizes several mechanisms for detecting mis-assemblies, and describes their implementation in our automated validation pipeline, called amosvalidate. We demonstrate the application of our pipeline in both bacterial and eukaryotic genome assemblies, and highlight several assembly errors in both draft and finished genomes. The software described is compatible with common assembly formats and is released, open-source, at http://amos.sourceforge.net.Keywords
This publication has 40 references indexed in Scilit:
- Beware of mis-assembled genomesBioinformatics, 2005
- Shotgun sequence assembly and recent segmental duplications within the human genomeNature, 2004
- End of the beginningNature, 2004
- Quality assessment of the human genome sequenceNature, 2004
- Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequenceGenome Biology, 2003
- Comparative Genome Sequencing for Discovery of Novel Polymorphisms in Bacillus anthracisScience, 2002
- The Sequence of the Human GenomeScience, 2001
- Initial sequencing and analysis of the human genomeNature, 2001
- Simple tandem DNA repeats and human genetic disease.Proceedings of the National Academy of Sciences, 1995
- Genomic mapping by fingerprinting random clones: A mathematical analysisGenomics, 1988