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Sensitive alignment using paralogous sequence variants improves long-read mapping and variant calling in segmental duplications

The ability to characterize repetitive regions of the human genome is limited by the read lengths of short-read sequencing technologies. Although long-read sequencing technologies such as Pacific Biosciences (PacBio) and Oxford Nanopore Technologies can potentially overcome this limitation, long seg...

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Veröffentlicht in:Nucleic Acids Res
Hauptverfasser: Prodanov, Timofey, Bansal, Vikas
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2020
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7641771/
https://ncbi.nlm.nih.gov/pubmed/33035301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkaa829
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