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Variation graph toolkit improves read mapping by representing genetic variation in the reference

Reference genomes guide our interpretation of DNA sequence data. However, conventional linear references represent only one version of each locus, ignoring variation in the population. Poor representation of an individual’s genome sequence impacts read mapping and introduces bias. Variation graphs a...

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書目詳細資料
發表在:Nat Biotechnol
Main Authors: Garrison, Erik, Sirén, Jouni, Novak, Adam M., Hickey, Glenn, Eizenga, Jordan M., Dawson, Eric T., Jones, William, Garg, Shilpa, Markello, Charles, Lin, Michael F., Paten, Benedict, Durbin, Richard
格式: Artigo
語言:Inglês
出版: 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6126949/
https://ncbi.nlm.nih.gov/pubmed/30125266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nbt.4227
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