Genotyping structural variants in pangenome graphs using the vg toolkit

Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV catalogs for short-read SV genotyping experiments. We b...

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Detalles Bibliográficos
Autores principales: Hickey, Glenn, Heller, David, Monlong, Jean, Sibbesen, Jonas A., Sirén, Jouni, Eizenga, Jordan, Dawson, Eric T., Garrison, Erik, Novak, Adam M., Paten, Benedict
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017486/
https://www.ncbi.nlm.nih.gov/pubmed/32051000
http://dx.doi.org/10.1186/s13059-020-1941-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017486/
https://www.ncbi.nlm.nih.gov/pubmed/32051000
http://dx.doi.org/10.1186/s13059-020-1941-7

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