The DOI matches its Crossref record; 136 of the 136 references it cites were found in a registry or an index.
The promise of whole-exome sequencing in medical genetics
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
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
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
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Specific Enzymatic Amplification of DNA In Vitro: The Polymerase Chain Reaction
Mullis, K., Faloona, F., Scharf, S., Saiki, R., Horn, G., & Erlich, H. (1986) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1986.051.01.032 · Cited by 3,558
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Jiao, Y., Shi, C., Edil, B. H., de Wilde, R. F., Klimstra, D. S., Maitra, A., Schulick, R. D., Tang, L. H., Wolfgang, C. L., Choti, M. A., et al. (2011) · Science · doi:10.1126/science.1200609 · Cited by 1,717
Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
Agrawal, N., Frederick, M. J., Pickering, C. R., Bettegowda, C., Chang, K., Li, R. J., Fakhry, C., Xie, T.-X., Zhang, J., Wang, J., et al. (2011) · Science · doi:10.1126/science.1206923 · Cited by 1,697
Newborn Hearing Screening — A Silent Revolution
Morton, C. C., & Nance, W. E. (2006) · New England Journal of Medicine · doi:10.1056/nejmra050700 · Cited by 1,686
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
Cited by
Next-Generation Sequencing Technology: Current Trends and Advancements
Satam, H., Joshi, K., Mangrolia, U., Waghoo, S., Zaidi, G., Rawool, S., Thakare, R. P., Banday, S., Mishra, A. K., Das, G., et al. (2023) · Biology · doi:10.3390/biology12070997 · Cited by 1,299
Drug Repurposing for Rare Diseases
Roessler, H. I., Knoers, N. V. A. M., van Haelst, M. M., & van Haaften, G. (2021) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2021.01.003 · Cited by 269
Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0112-7 · Cited by 248
Ghoreyshi, N., Heidari, R., Farhadi, A., Chamanara, M., Farahani, N., Vahidi, M., & Behroozi, J. (2025) · Discover Oncology · doi:10.1007/s12672-025-01816-9 · Cited by 91
Katsumata, Y., Nelson, P. T., Estus, S., & Fardo, D. W. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.10.017 · Cited by 30
Metadata
- Authors
- Rabbani, B., Tekin, M., & Mahdieh, N.
- Venue
- Journal of Human Genetics
- Published
- 2013-11-07
- Volume
- 59
- Issue
- 1
- Pages
- 5-15
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2078512370
- Cited by
- 542
- References
- 136
- FWCI
- 30.55
- Type
- journal article
- Language
- en
- Open access
- closed
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The promise of whole-exome sequencing in medical genetics. https://app.cochat.ai/papers/10.1038/jhg.2013.114
- The paper
- Rabbani, B., Tekin, M., & Mahdieh, N. (2014). The promise of whole-exome sequencing in medical genetics. Journal of Human Genetics. https://doi.org/10.1038/jhg.2013.114
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.
