The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Deep sequencing of 10,000 human genomes
Open accessAbstract
Significance: Large-scale initiatives toward personalized medicine are driving a massive expansion in the number of human genomes being sequenced. Therefore, there is an urgent need to define quality standards for clinical use. This includes deep coverage and sequencing accuracy of an individual’s genome. Our work represents the largest effort to date in sequencing human genomes at deep coverage with these new standards. This study identifies over 150 million human variants, a majority of them rare and unknown. Moreover, these data identify sites in the genome that are highly intolerant to variation—possibly essential for life or health. We conclude that high-coverage genome sequencing provides accurate detail on human variation for discovery and clinical applications.
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Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183
Genome-scale CRISPR-Cas9 knockout screening in human cells
Shalem, O., Sanjana, N. E., Hartenian, E., Shi, X., Scott, D. A., Mikkelsen, T. S., Heckl, D., Ebert, B. L., Root, D. E., Doench, J. G., et al. (2014) · Science · doi:10.1126/science.1247005 · Cited by 5,234
Alternative splicing and evolution: diversification, exon definition and function
Keren, H., Lev-Maor, G., & Ast, G. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2776 · Cited by 1,082
The UK10K project identifies rare variants in health and disease
The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature · doi:10.1038/nature14962 · Cited by 1,040
Extensive sequencing of seven human genomes to characterize benchmark reference materials
Zook, J. M., Catoe, D., McDaniel, J., Vang, L., Spies, N., Sidow, A., Weng, Z., Liu, Y., Mason, C. E., Alexander, N., et al. (2016) · Scientific Data · doi:10.1038/sdata.2016.25 · Cited by 811 · cited 1×
“In an effort to evaluate the capabilities of whole human genome sequencing using short-read sequencing in full production mode, we first measured accuracy and generated quality standards by analysis of the reference material NA12878 from the CEPH Utah Reference Collection (8).”
MethodLarge-scale whole-genome sequencing of the Icelandic population
Gudbjartsson, D. F., Helgason, H., Gudjonsson, S. A., Zink, F., Oddson, A., Gylfason, A., Besenbacher, S., Magnusson, G., Halldorsson, B. V., Hjartarson, E., et al. (2015) · Nature Genetics · doi:10.1038/ng.3247 · Cited by 791
The Genome of the Netherlands Consortium (2014) · Nature Genetics · doi:10.1038/ng.3021 · Cited by 659
Cited by
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., et al. (2021) · Nature · doi:10.1038/s41586-021-03205-y · Cited by 2,213
Byrska-Bishop, M., Evani, U. S., Zhao, X., Basile, A. O., Abel, H. J., Regier, A. A., Corvelo, A., Clarke, W. E., Musunuri, R., Nagulapalli, K., et al. (2022) · Cell · doi:10.1016/j.cell.2022.08.004 · Cited by 1,094
The fecal metabolome as a functional readout of the gut microbiome
Zierer, J., Jackson, M. A., Kastenmüller, G., Mangino, M., Long, T., Telenti, A., Mohney, R. P., Small, K. S., Bell, J. T., Steves, C. J., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0135-7 · Cited by 733
Self-citationDigital Twins in Health Care: Ethical Implications of an Emerging Engineering Paradigm
Bruynseels, K., Santoni de Sio, F., & van den Hoven, J. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00031 · Cited by 704
Digital Twins: From Personalised Medicine to Precision Public Health
Kamel Boulos, M. N., & Zhang, P. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11080745 · Cited by 530
Metadata
- Authors
- Telenti, A., Pierce, L. C. T., Biggs, W. H., di Iulio, J., Wong, E. H. M., Fabani, M. M., Kirkness, E. F., Moustafa, A., Shah, N., Xie, C., Brewerton, S. C., Bulsara, N., Garner, C., Metzker, G., Sandoval, E., Perkins, B. A., Och, F. J., Turpaz, Y., & Venter, J. C.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2016-10-04
- Volume
- 113
- Issue
- 42
- Pages
- 11901-11906
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2528619219
- Cited by
- 336
- References
- 31
- FWCI
- 37.92
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Deep sequencing of 10,000 human genomes. https://app.cochat.ai/papers/10.1073/pnas.1613365113
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- Telenti, A., Pierce, L. C. T., Biggs, W. H., di Iulio, J., Wong, E. H. M., Fabani, M. M., Kirkness, E. F., Moustafa, A., Shah, N., Xie, C., Brewerton, S. C., Bulsara, N., Garner, C., Metzker, G., Sandoval, E., Perkins, B. A., Och, F. J., Turpaz, Y., & Venter, J. C. (2016). Deep sequencing of 10,000 human genomes. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1613365113
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
