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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang: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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