De novo assembly of human genome at single-cell levels
| العنوان: | De novo assembly of human genome at single-cell levels |
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| المؤلفون: | Haoling Xie, Wen Li, Yuqiong Hu, Cheng Yang, Jiansen Lu, Yuqing Guo, Lu Wen, Fuchou Tang |
| المصدر: | Nucleic Acids Research. 50:7479-7492 |
| بيانات النشر: | Oxford University Press (OUP), 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Nanopores, Genome, Human, Genetics, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA |
| الوصف: | Genome assembly has been benefited from long-read sequencing technologies with higher accuracy and higher continuity. However, most human genome assembly require large amount of DNAs from homogeneous cell lines without keeping cell heterogeneities, since cell heterogeneity could profoundly affect haplotype assembly results. Herein, using single-cell genome long-read sequencing technology (SMOOTH-seq), we have sequenced K562 and HG002 cells on PacBio HiFi and Oxford Nanopore Technologies (ONT) platforms and conducted de novo genome assembly. For the first time, we have completed the human genome assembly with high continuity (with NG50 of ∼2 Mb using 95 individual K562 cells) at single-cell levels, and explored the impact of different assemblers and sequencing strategies on genome assembly. With sequencing data from 30 diploid individual HG002 cells of relatively high genome coverage (average coverage ∼41.7%) on ONT platform, the NG50 can reach over 1.3 Mb. Furthermore, with the assembled genome from K562 single-cell dataset, more complete and accurate set of insertion events and complex structural variations could be identified. This study opened a new chapter on the practice of single-cell genome de novo assembly. |
| تدمد: | 1362-4962 0305-1048 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995e1d9f598cc51273403f2187d2dc95Test https://doi.org/10.1093/nar/gkac586Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....995e1d9f598cc51273403f2187d2dc95 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13624962 03051048 |
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