The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
Open accessAbstract
Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems. Here we capsulize how SMRT sequencing is revolutionizing constitutional, reproductive, cancer, microbial and viral genetic testing.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Direct detection of DNA methylation during single-molecule, real-time sequencing
Flusberg, B. A., Webster, D. R., Lee, J. H., Travers, K. J., Olivares, E. C., Clark, T. A., Korlach, J., & Turner, S. W. (2010) · Nature Methods · doi:10.1038/nmeth.1459 · Cited by 1,460 · cited 1×
“These platforms permit sequencing/assembly through repetitive elements, direct variant phasing, and even direct detection of epigenetic modifications (17,18).”
BackgroundThe sequence of sequencers: The history of sequencing DNA
Heather, J. M., & Chain, B. (2016) · Genomics · doi:10.1016/j.ygeno.2015.11.003 · Cited by 1,397 · cited 2×
“Though earlier first-generation technologies provided ground breaking discoveries, the big revolution in sequencing began with the invention of the ‘chaintermination’ or dideoxy technique, or what is today called Sanger sequencing (3,4).”
BackgroundMethodA single-molecule long-read survey of the human transcriptome
Sharon, D., Tilgner, H., Grubert, F., & Snyder, M. (2013) · Nature Biotechnology · doi:10.1038/nbt.2705 · Cited by 701
Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area
Nakano, K., Shiroma, A., Shimoji, M., Tamotsu, H., Ashimine, N., Ohki, S., Shinzato, M., Minami, M., Nakanishi, T., Teruya, K., et al. (2017) · Human Cell · doi:10.1007/s13577-017-0168-8 · Cited by 182
Cited by
Opportunities and challenges in long-read sequencing data analysis
Amarasinghe, S. L., Su, S., Dong, X., Zappia, L., Ritchie, M. E., & Gouil, Q. (2020) · Genome Biology · doi:10.1186/s13059-020-1935-5 · Cited by 2,530
Current challenges and best-practice protocols for microbiome analysis
Bharti, R., & Grimm, D. G. (2021) · Briefings in Bioinformatics · doi:10.1093/bib/bbz155 · Cited by 592
Pearman, W. S., Freed, N. E., & Silander, O. K. (2020) · BMC Bioinformatics · doi:10.1186/s12859-020-3528-4 · Cited by 114
Schmid, M., Frei, D., Patrignani, A., Schlapbach, R., Frey, J. E., Remus-Emsermann, M. N. P., & Ahrens, C. H. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky726 · Cited by 92
Full-length single-molecule protein fingerprinting
Filius, M., van Wee, R., de Lannoy, C., Westerlaken, I., Li, Z., Kim, S. H., de Agrela Pinto, C., Wu, Y., Boons, G.-J., Pabst, M., et al. (2024) · Nature Nanotechnology · doi:10.1038/s41565-023-01598-7 · Cited by 30
Metadata
- Authors
- Ardui, S., Ameur, A., Vermeesch, J. R., & Hestand, M. S.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-02-01
- Volume
- 46
- Issue
- 5
- Pages
- 2159-2168
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2792451020
- Cited by
- 739
- References
- 5
- FWCI
- 24.33
- Type
- journal article
- Language
- en
- Open access
- gold
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
