The DOI matches its Crossref record; 70 of the 70 references it cites were found in a registry or an index.
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
Open accessAbstract
Patients with genetic disease of unknown causes can be rapidly diagnosed by bioinformatic analysis of disease-associated DNA sequences and phenotype.
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
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
Database resources of the National Center for Biotechnology Information: update
Wheeler, D. L. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh073 · Cited by 10,641
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,577
ClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,964
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Improved Splice Site Detection in Genie
REESE, M. G., EECKMAN, F. H., KULP, D., & HAUSSLER, D. (1997) · Journal of Computational Biology · doi:10.1089/cmb.1997.4.311 · Cited by 1,567
Cited by
Building a knowledge graph to enable precision medicine
Chandak, P., Huang, K., & Zitnik, M. (2023) · Scientific Data · doi:10.1038/s41597-023-01960-3 · Cited by 522
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.003 · Cited by 447
Self-citationThe Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., et al. (2015) · Human Mutation · doi:10.1002/humu.22858 · Cited by 469
Self-citationNext-generation diagnostics and disease-gene discovery with the Exomiser
Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols · doi:10.1038/nprot.2015.124 · Cited by 445
Self-citationMungall, C. J., McMurry, J. A., Köhler, S., Balhoff, J. P., Borromeo, C., Brush, M., Carbon, S., Conlin, T., Dunn, N., Engelstad, M., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1128 · Cited by 441
Self-citation
Metadata
- Authors
- Zemojtel, T., Köhler, S., Mackenroth, L., Jäger, M., Hecht, J., Krawitz, P., Graul-Neumann, L., Doelken, S., Ehmke, N., Spielmann, M., Øien, N. C., Schweiger, M. R., Krüger, U., Frommer, G., Fischer, B., Kornak, U., Flöttmann, R., Ardeshirdavani, A., Moreau, Y., Lewis, S. E., Haendel, M., Smedley, D., Horn, D., Mundlos, S., & Robinson, P. N.
- Venue
- Science Translational Medicine
- Published
- 2014-09-03
- Volume
- 6
- Issue
- 252
- Pages
- 252ra123-252ra123
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2059313072
- Cited by
- 255
- References
- 70
- FWCI
- 17.04
- Type
- journal article
- Language
- en
- Open access
- green
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: Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. https://app.cochat.ai/papers/10.1126/scitranslmed.3009262
- The paper
- Zemojtel, T., Köhler, S., Mackenroth, L., Jäger, M., Hecht, J., Krawitz, P., Graul-Neumann, L., Doelken, S., Ehmke, N., Spielmann, M., Øien, N. C., Schweiger, M. R., Krüger, U., Frommer, G., Fischer, B., Kornak, U., Flöttmann, R., Ardeshirdavani, A., Moreau, Y., . . . Robinson, P. N. (2014). Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3009262
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.
