Limitations of current approaches for reference-free, graph-based variant detection

Abstract

Detection of variants via examination of sequence graphs enables fast analysis of non-model organisms, metagenomic samples, and individual human genomes. Here, we analyze the shortcomings of existing algorithms for reference-free variant detection, then provide algorithmic recommendations for their improvement.

Publication
Proceedings of the 7th ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics, [DOI:10.1145/2975167.2985653]
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