A machine learning framework for genotyping the structural variations with copy number variant
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genomics"
DOI: 10.1186/s12920-020-00733-w
Abstract: Genotyping of structural variation is an important computational problem in next generation sequence data analysis. However, in cancer genomes, the copy number variant(CNV) often coexists with other types of structural variations which significantly reduces the… read more here.
Keywords: machine; structural variations; machine learning; genotyping structural ... See more keywords
Genotyping structural variants in pangenome graphs using the vg toolkit
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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… read more here.
Keywords: graphs; genotyping structural; graphs using; pangenome graphs ... See more keywords