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Critical assessment of bioinformatics methods for the characterization of pathological repeat expansions with single-molecule sequencing data

Matteo Chiara, Federico Zambelli, Ernesto Picardi, David Stephen Horner, Graziano Pesole. Critical assessment of bioinformatics methods for the characterization of pathological repeat expansions with single-molecule sequencing data. Briefings in Bioinformatics, 21(6):1971-1986, 2020. [doi]

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