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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Genome Biol
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2019
विषय:
ऑनलाइन पहुंच: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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