Article
Critical assessment of bioinformatics methods for the characterization of pathological repeat expansions with single-molecule sequencing data.
Briefings in bioinformatics - 1 Dec 2020
Chiara Matteo, Zambelli Federico, Picardi Ernesto, Horner David S, Pesole Graziano
Abstract excerpt
A number of studies have reported the successful application of single-molecule sequencing technologies to the determination of the size and sequence of pathological expanded microsatellite repeats over the last 5 years. However, different custom bioinformatics pipelines were employed in each study, preventing meaningful comparisons and somewhat limiting the reproducibility of the results. In this review, we...
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