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PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution
Resolving complex genomic regions rich in segmental duplications (SDs) is challenging due to the high error rate of long-read sequencing. Here, we describe a targeted approach with a novel genome assembler PhaseDancer that extends SD-rich regions of interest iteratively. We validate its robustness a...
Autores principales: | Poszewiecka, Barbara, Gogolewski, Krzysztof, Karolak, Justyna A., Stankiewicz, Paweł, Gambin, Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496407/ https://www.ncbi.nlm.nih.gov/pubmed/37697406 http://dx.doi.org/10.1186/s13059-023-03022-8 |
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