Paragraph: a graph-based structural variant genotyper for short-read sequence data

Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical sequencing pipelines. We introduce Paragraph, an accurate genotyper that models SVs using sequence graphs and SV annotations. We demonstrate...

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Detalhes bibliográficos
Publicado no:Genome Biol
Main Authors: Chen, Sai, Krusche, Peter, Dolzhenko, Egor, Sherman, Rachel M., Petrovski, Roman, Schlesinger, Felix, Kirsche, Melanie, Bentley, David R., Schatz, Michael C., Sedlazeck, Fritz J., Eberle, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6921448/
https://ncbi.nlm.nih.gov/pubmed/31856913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-019-1909-7
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