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Published in 2020 at "Annual review of genomics and human genetics"
DOI: 10.1146/annurev-genom-120219-080406
Abstract: Low-cost whole-genome assembly has enabled the collection of haplotype-resolved pangenomes for numerous organisms. In turn, this technological change is encouraging the development of methods that can precisely address the sequence and variation described in large…
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Keywords:
pangenome graphs;
sequence;
genetics;
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Published in 2020 at "Genome Biology"
DOI: 10.1186/s13059-020-1941-7
Abstract: Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV…
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Keywords:
graphs;
genotyping structural;
graphs using;
pangenome graphs ... See more keywords