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A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing
Despite tremendous progress in genome sequencing, the basic goal of producing phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe a new approach to perform de novo genome assembly and...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927370/ https://www.ncbi.nlm.nih.gov/pubmed/27159086 http://dx.doi.org/10.1038/nmeth.3865 |
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| author | Mostovoy, Yulia Levy-Sakin, Michal Lam, Jessica Lam, Ernest T Hastie, Alex R Marks, Patrick Lee, Joyce Chu, Catherine Lin, Chin Džakula, Željko Cao, Han Schlebusch, Stephen A. Giorda, Kristina Schnall-Levin, Michael Wall, Jeffrey D. Kwok, Pui-Yan |
| author_facet | Mostovoy, Yulia Levy-Sakin, Michal Lam, Jessica Lam, Ernest T Hastie, Alex R Marks, Patrick Lee, Joyce Chu, Catherine Lin, Chin Džakula, Željko Cao, Han Schlebusch, Stephen A. Giorda, Kristina Schnall-Levin, Michael Wall, Jeffrey D. Kwok, Pui-Yan |
| author_sort | Mostovoy, Yulia |
| collection | PubMed |
| description | Despite tremendous progress in genome sequencing, the basic goal of producing phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe a new approach to perform de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics Linked-Read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome. |
| format | Online Article Text |
| id | pubmed-4927370 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-49273702016-11-09 A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing Mostovoy, Yulia Levy-Sakin, Michal Lam, Jessica Lam, Ernest T Hastie, Alex R Marks, Patrick Lee, Joyce Chu, Catherine Lin, Chin Džakula, Željko Cao, Han Schlebusch, Stephen A. Giorda, Kristina Schnall-Levin, Michael Wall, Jeffrey D. Kwok, Pui-Yan Nat Methods Article Despite tremendous progress in genome sequencing, the basic goal of producing phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe a new approach to perform de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics Linked-Read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome. 2016-05-09 2016-07 /pmc/articles/PMC4927370/ /pubmed/27159086 http://dx.doi.org/10.1038/nmeth.3865 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Mostovoy, Yulia Levy-Sakin, Michal Lam, Jessica Lam, Ernest T Hastie, Alex R Marks, Patrick Lee, Joyce Chu, Catherine Lin, Chin Džakula, Željko Cao, Han Schlebusch, Stephen A. Giorda, Kristina Schnall-Levin, Michael Wall, Jeffrey D. Kwok, Pui-Yan A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing |
| title | A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing |
| title_full | A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing |
| title_fullStr | A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing |
| title_full_unstemmed | A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing |
| title_short | A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing |
| title_sort | hybrid approach for de novo human genome sequence assembly and phasing |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927370/ https://www.ncbi.nlm.nih.gov/pubmed/27159086 http://dx.doi.org/10.1038/nmeth.3865 |
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