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SDip: A novel graph-based approach to haplotype-aware assembly based structural variant calling in targeted segmental duplications sequencing
[article]
2020
bioRxiv
pre-print
Segmental duplications are important for understanding human diseases and evolution. The challenge to distinguish allelic and duplication sequences has hindered their phased assembly as well as characterization of structural variant calls. Here we have developed a novel graph-based approach that leverages single nucleotide differences in overlapping reads to distinguish allelic and duplication sequences information from long read accurate PacBio HiFi sequencing. These differences enable to
doi:10.1101/2020.02.25.964445
fatcat:pnnqxdkem5d5nhiiry2wwikczq