The DOI matches its Crossref record; 26 of the 27 references it cites were found in a registry or an index; none of the 4 sources its claims cite is checked for support yet.
Bioinformatics
Open accessAbstract
An unprecedented wealth of biological data has been generated by the human genome project and sequencing projects in other organisms.The huge demand for analysis and interpretation of these data is being managed by the evolving science of bioinformatics.Bioinformatics is defined as the application of tools of computation and analysis to the capture and interpretation of biological data.It is an interdisciplinary field, which harnesses computer science, mathematics, physics, and biology (fig 1).Bioinformatics is essential for management of data in modern biology and medicine.This paper describes the main tools of the bioinformatician and discusses how they are being used to interpret biological data and to further understanding of disease.The potential clinical applications of these data in drug discovery and development are also discussed. MethodsThis article is based on personal experience in bioinformatics and on selected articles in recent issues of Nature Genetics, Nature Genetics Reviews, Nature Medicine, and Science.Key terms including bioinformatics, comparative and functional genomics, proteomics, microarray, disease, and medicine were used to search for relevant articles in the peer reviewed scientific literature.
Overview
CoChat Summary
TL;DR
This narrative review defines bioinformatics as the application of computational and analytical tools to capture and interpret biological data, and describes its role in genomics, proteomics, transcriptomics, and clinical medicine. It argues that bioinformatics is essential for managing modern biological data and will increasingly enable drug discovery, targeted therapy, and personalised medicine.
Key findings
- Bioinformatics is defined as “the application of tools of computation and analysis to the capture and interpretation of biological data,” and is described as an interdisciplinary field harnessing computer science, mathematics, physics, and biology.
- The paper highlights core bioinformatic tools and resources, including BLAST for sequence similarity searches, Ensembl for automatic annotation of eukaryotic genomes, and public databases such as Genbank, SWISS-PROT, and NCBI’s Entrez.
- Genome sequencing milestones are cited: the first complete genome of a free-living organism, *Haemophilus influenzae*, was sequenced in 1995 using a “shot gun” technique; the human genome project planned to complete the human sequence by 2003.
- Clinical applications discussed include using PubMed and OMIM for genetic disorder information, the development of imatinib mesylate (Gleevec) for chronic myeloid leukaemia, and longer-term prospects for pharmacogenomics and individualised therapy.
Methods
- Design: narrative review based on “personal experience in bioinformatics and on selected articles in recent issues of Nature Genetics, Nature Genetics Reviews, Nature Medicine, and Science.”
- Search approach: key terms including bioinformatics, comparative and functional genomics, proteomics, microarray, disease, and medicine were used to search peer-reviewed scientific literature.
- Analysis: descriptive synthesis of bioinformatic tools, databases, genomic/proteomic concepts, and potential clinical applications; no primary data collection or quantitative analysis is reported.
Limitations
- The paper does not state explicit limitations.
- Evident from the text: it is a non-systematic narrative review based on personal experience and selected articles, with no described systematic search strategy, inclusion criteria, or critical appraisal.
- Evident from the text: many clinical and future applications are presented as prospects or predictions rather than demonstrated outcomes, and no empirical data are reported to support them.
Model-written summary. Check it against the paper before relying on it.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
0 Valid · 7 Not valid · 4 Not checked · 19 Own results and interpretations
A statement the paper makes itself — it cites no source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Basic bioinformatic tools are already accessed in certain clinical situations to aid in diagnosis and treatment plans.”
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The ability to identify and target specific genetic markers by using bioinformatic tools facilitated the discovery of this drug.”
plainstates a cause- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: unclear — It is unclear why the paper says it holds.
- Rests on an assumption not shown here.
In the paper
“An example of the application of bioinformatics in new therapeutic advances is the development of novel designer targeted drugs such as imatinib mesylate (Gleevec), which interferes with the abnormal protein made in chronic myeloid leukaemia.”
What the sources say
- Not checked — no full text of the sourcecites [17] source
plainstates a cause- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Rests on an assumption not shown here.
- Probably not a substantial claim. 27
- It may state two separate claims as one. 8
Citations
Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Analysis of the genome sequence of the flowering plant Arabidopsis thaliana
Initiative, T. A. G. (2000) · Nature · doi:10.1038/35048692 · Cited by 9,301
Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence
Cole, S. T., Brosch, R., Parkhill, J., Garnier, T., Churcher, C., Harris, D., Gordon, S. V., Eiglmeier, K., Gas, S., Barry, C. E., et al. (1998) · Nature · doi:10.1038/31159 · Cited by 7,847
Whole-Genome Random Sequencing and Assembly of Haemophilus influenzae Rd
Fleischmann, R. D., Adams, M. D., White, O. R., Clayton, R. A., Kirkness, E. F., Kerlavage, A. R., Bult, C. J., Tomb, J.-F., Dougherty, B. A., Merrick, J. M., et al. (1995) · Science · doi:10.1126/science.7542800 · Cited by 5,731
Genome Sequence of the Nematode C. elegans : A Platform for Investigating Biology
Berg, J. (1998) · Science · doi:10.1126/science.282.5396.2012 · Cited by 4,458
Goffeau, A., Barrell, B. G., Bussey, H., Davis, R. W., Dujon, B., Feldmann, H., Galibert, F., Hoheisel, J. D., Jacq, C., Johnston, M., et al. (1996) · Science · doi:10.1126/science.274.5287.546 · Cited by 4,423
Druker, B. J., Sawyers, C. L., Kantarjian, H., Resta, D. J., Reese, S. F., Ford, J. M., Capdeville, R., & Talpaz, M. (2001) · New England Journal of Medicine · doi:10.1056/nejm200104053441402 · Cited by 2,713
The Minimal Gene Complement of Mycoplasma genitalium
Fraser, C. M., Gocayne, J. D., White, O., Adams, M. D., Clayton, R. A., Fleischmann, R. D., Bult, C. J., Kerlavage, A. R., Sutton, G., Kelley, J. M., et al. (1995) · Science · doi:10.1126/science.270.5235.397 · Cited by 2,545
The Sequence of the Human Genome
Venter, J. C., Smith, H. O., & Adams, M. D. (2015) · Clinical Chemistry · doi:10.1373/clinchem.2014.237016 · Cited by 1,648
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Intrinsic and extrinsic pathways of apoptosis: Role in cancer development and prognosis
Kashyap, D., Garg, V. K., & Goel, N. (2021) · Advances in protein chemistry and structural biology · doi:10.1016/bs.apcsb.2021.01.003 · Cited by 455
Converting tabular data into images for deep learning with convolutional neural networks
Zhu, Y., Brettin, T. S., Xia, F., Partin, A., Shukla, M. P., Yoo, H., Evrard, Y. A., Doroshow, J. H., & Stevens, R. L. (2021) · Scientific Reports · doi:10.1038/s41598-021-90923-y · Cited by 246
Martin-Sanchez, F. J., Iakovidis, I., Norager, S., Maojo, V., de Groen, P., van der Lei, J., Jones, T., Abraham‐Fuchs, K., Apweiler, R., Babić, A., et al. (2003) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2003.09.003 · Cited by 152
Systems biology of human benzene exposure
Zhang, L., McHale, C. M., Rothman, N., Li, G., Ji, Z., Vermeulen, R. C. H., Hubbard, A., Ren, X., Shen, M., Rappaport, S. M., et al. (2009) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2009.12.011 · Cited by 111
Human Endogenous Retroviruses (HERVs) and Autoimmune Rheumatic Disease: Is There a Link?
Tugnet, N., Rylance, P. B., Roden, D., Trela, M., & Nelson, P. (2013) · The Open Rheumatology Journal · doi:10.2174/1874312901307010013 · Cited by 94
Metadata
- Authors
- Bayat, A.
- Affiliations
- University of Manchester (GB)
- Corresponding author
- Bayat, Ardeshir
- ORCID
- Bayat, Ardeshir
- Venue
- BMJ
- Publisher
- BMJ
- Published
- 2002-04-27
- Volume
- 324
- Issue
- 7344
- Pages
- 1018-1022
- ISSN
- 0007-1447 (ISSN-L)
- 0959-8138
- 1468-5833
- PMC
- PMC1122955
- OpenAlex
- W2025004204
- Cited by
- 278
- References
- 27
- Citations by year
- 2026: 13 · 2025: 25 · 2024: 46 · 2023: 43 · 2022: 35 · 2021: 23 · 2020: 15 · 2019: 4 · 2018: 7 · 2017: 3 · 2016: 4 · 2014: 1 · 2013: 5 · 2012: 5
- FWCI
- 2.08
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.bmj.com/company/legal-information/terms-conditions/legal-information/tdm-licencepolicy (tdm)
- Locations
- BMJ (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genetics, Bioinformatics, and Biomedical Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- bioinformatics, human genome, comparative genomics, functional genomics, proteomics, microarray, drug discovery, disease
- MeSH terms
- Forecasting, Humans, Genome, Human, Computational Biology, Internet, Genomics
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.
A language model drew the claims from the paper on 2026-11-13, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-11-13 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
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 ›
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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.
