GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted in sequence analysis studies, although each has a relatively large impact on the genome. Here, we present GraphTyper2, which uses pangenome graphs to genotype SVs and small variants using short-reads. Comparison to...
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GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
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TN_cdi_doaj_primary_oai_doaj_org_article_cd77ec3f22c54b3da55a42242e739711
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cd77ec3f22c54b3da55a42242e739711
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-019-13341-9
