Dokument: Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing
| Titel: | Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing | |||||||
| URL für Lesezeichen: | https://docserv.uni-duesseldorf.de/servlets/DocumentServlet?id=67911 | |||||||
| URN (NBN): | urn:nbn:de:hbz:061-20241206-111332-2 | |||||||
| Kollektion: | Publikationen | |||||||
| Sprache: | Englisch | |||||||
| Dokumententyp: | Wissenschaftliche Texte » Artikel, Aufsatz | |||||||
| Medientyp: | Text | |||||||
| Autoren: | Henglin, Mir [Autor] Ghareghani, Maryam [Autor] Harvey, William T. [Autor] Porubsky, David [Autor] Koren, Sergey [Autor] Eichler, Evan E. [Autor] Ebert, Peter [Autor] Marschall, Tobias [Autor] | |||||||
| Dateien: |
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| Stichwörter: | Hifiasm, Hi-C, Trio, Haplotype, De novo assembly, Phasing, Assembly graph, Verkko, Strand-seq | |||||||
| Beschreibung: | Haplotype information is crucial for biomedical and population genetics research. However, current strategies to produce de novo haplotype-resolved assemblies often require either difficult-to-acquire parental data or an intermediate haplotype-collapsed assembly. Here, we present Graphasing, a workflow which synthesizes the global phase signal of Strand-seq with assembly graph topology to produce chromosome-scale de novo haplotypes for diploid genomes. Graphasing readily integrates with any assembly workflow that both outputs an assembly graph and has a haplotype assembly mode. Graphasing performs comparably to trio phasing in contiguity, phasing accuracy, and assembly quality, outperforms Hi-C in phasing accuracy, and generates human assemblies with over 18 chromosome-spanning haplotypes. | |||||||
| Rechtliche Vermerke: | Originalveröffentlichung:
Henglin, M., Ghareghani, M., Harvey, W. T., Porubsky, D., Koren, S., Eichler, E. E., Ebert, P., & Marschall, T. (2024). Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing. Genome Biology, 25, Article 265. https://doi.org/10.1186/s13059-024-03409-1 | |||||||
| Lizenz: |  Dieses Werk ist lizenziert unter einer Creative Commons Namensnennung 4.0 International Lizenz | |||||||
| Fachbereich / Einrichtung: | Medizinische Fakultät | |||||||
| Dokument erstellt am: | 06.12.2024 | |||||||
| Dateien geändert am: | 06.12.2024 |
