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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Detaylı Bibliyografya
Yayımlandı:Genome Biol
Asıl Yazarlar: Hickey, Glenn, Heller, David, Monlong, Jean, Sibbesen, Jonas A., Sirén, Jouni, Eizenga, Jordan, Dawson, Eric T., Garrison, Erik, Novak, Adam M., Paten, Benedict
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Method
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017486/
https://ncbi.nlm.nih.gov/pubmed/32051000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-020-1941-7
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