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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126949/
https://www.ncbi.nlm.nih.gov/pubmed/30125266
http://dx.doi.org/10.1038/nbt.4227