The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Long-read sequencing and de novo assembly of a Chinese genome
Open accessAbstract
Short-read sequencing has enabled the de novo assembly of several individual human genomes, but with inherent limitations in characterizing repeat elements. Here we sequence a Chinese individual HX1 by single-molecule real-time (SMRT) long-read sequencing, construct a physical map by NanoChannel arrays and generate a de novo assembly of 2.93 Gb (contig N50: 8.3 Mb, scaffold N50: 22.0 Mb, including 39.3 Mb N-bases), together with 206 Mb of alternative haplotypes. The assembly fully or partially fills 274 (28.4%) N-gaps in the reference genome GRCh38. Comparison to GRCh38 reveals 12.8 Mb of HX1-specific sequences, including 4.1 Mb that are not present in previously reported Asian genomes. Furthermore, long-read sequencing of the transcriptome reveals novel spliced genes that are not annotated in GENCODE and are missed by short-read RNA-Seq. Our results imply that improved characterization of genome functional variation may require the use of a range of genomic technologies on diverse human populations.
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Cites
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Cited by
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Self-citation
Metadata
- Authors
- Shi, L., Guo, Y., Dong, C., Huddleston, J., Yang, H., Han, X., Fu, A., Li, Q., Li, N., Gong, S., Lintner, K. E., Ding, Q., Wang, Z., Hu, J., Wang, D., Wang, F., Wang, L., Lyon, G. J., Guan, Y., Shen, Y., Evgrafov, O. V., Knowles, J. A., Thibaud-Nissen, F., Schneider, V., Yu, C.-Y., Zhou, L., Eichler, E. E., So, K.-F., & Wang, K.
- Venue
- Nature Communications
- Published
- 2016-06-30
- Volume
- 7
- Issue
- 1
- Pages
- 12065-12065
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2464063823
- Cited by
- 257
- References
- 12
- FWCI
- 17.91
- Type
- journal article
- Language
- en
- Open access
- gold
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