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Repetitive DNA and next-generation sequencing: computational challenges and solutions.

Nature reviews. Genetics

Genome, trends, methods, Sequence Analysis, RNA, Sequence Analysis, DNA, Sequence Alignment, Reproducibility of Results, genetics, Repetitive Sequences, Nucleic Acid, RNA, Plants, Molecular Sequence Data, Humans, DNA, Computational Biology, Animals, Algorithms, Software

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      Abstract

      Repetitive DNA sequences are abundant in a broad range of species, from bacteria to mammals, and they cover nearly half of the human genome. Repeats have always presented technical challenges for sequence alignment and assembly programs. Next-generation sequencing projects, with their short read lengths and high data volumes, have made these challenges more difficult. From a computational perspective, repeats create ambiguities in alignment and assembly, which, in turn, can produce biases and errors when interpreting results. Simply ignoring repeats is not an option, as this creates problems of its own and may mean that important biological phenomena are missed. We discuss the computational problems surrounding repeats and describe strategies used by current bioinformatics systems to solve them.

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      Journal
      22124482
      10.1038/nrg3117
      3324860

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