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...

Descripción completa

Detalles Bibliográficos
Autores principales: Poszewiecka, Barbara, Gogolewski, Krzysztof, Karolak, Justyna A., Stankiewicz, Paweł, Gambin, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Method
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

Internet

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

Ejemplares similares