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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Main Authors: | , , , , , , , , , , |
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Format: | Artigo |
Jezik: | angleščina |
Izdano: |
2019
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Online dostop: | https://doi.org/10.1186/s13059-019-1909-7 https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-019-1909-7 |
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