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SDip: A novel graph-based approach to haplotype-aware assembly based structural variant calling in targeted segmental duplications sequencing

2020-02-26

Abstract excerpt

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 informatio...

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Literature Corpus work: dd6c5cbb-1006-59a5-8967-718b4b8a7738
DOI: 10.1101/2020.02.25.964445

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