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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921448/
https://www.ncbi.nlm.nih.gov/pubmed/31856913
http://dx.doi.org/10.1186/s13059-019-1909-7

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