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MICADo – Looking for Mutations in Targeted PacBio Cancer Data: An Alignment-Free Method
2016
Frontiers in Genetics
Targeted sequencing is commonly used in clinical application of NGS technology since it enables generation of sufficient sequencing depth in the targeted genes of interest and thus ensures the best possible downstream analysis. This notwithstanding, the accurate discovery and annotation of disease causing mutations remains a challenging problem even in such favorable context. The difficulty is particularly salient in the case of third generation sequencing technology, such as PacBio. We present
doi:10.3389/fgene.2016.00214
pmid:28008336
pmcid:PMC5143680
fatcat:ay4y4dl25bhevneyz5evlk6wxe