The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines
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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
Self-citationIntegrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Thorvaldsdottir, H., Robinson, J. T., & Mesirov, J. P. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs017 · Cited by 9,049
Sequencing technologies – the next generation
Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066
Frampton, G. M., Fichtenholtz, A., Otto, G. A., Wang, K., Downing, S. R., He, J., Schnall-Levin, M., White, J., Sanford, E. M., An, P., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2696 · Cited by 2,157
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
Li, M. M., Datto, M., Duncavage, E. J., Kulkarni, S., Lindeman, N. I., Roy, S., Tsimberidou, A. M., Vnencak-Jones, C. L., Wolff, D. J., Younes, A., et al. (2017) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.10.002 · Cited by 2,030
Self-citationCock, P. J. A., Fields, C. J., Goto, N., Heuer, M. L., & Rice, P. M. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkp1137 · Cited by 1,879
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
den Dunnen, J. T., Dalgleish, R., Maglott, D. R., Hart, R. K., Greenblatt, M. S., McGowan-Jordan, J., Roux, A.-F., Smith, T., Antonarakis, S. E., Taschner, P. E. M., et al. (2016) · Human Mutation · doi:10.1002/humu.22981 · Cited by 1,653
Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels
Jennings, L. J., Arcila, M. E., Corless, C., Kamel-Reid, S., Lubin, I. M., Pfeifer, J., Temple-Smolkin, R. L., Voelkerding, K. V., & Nikiforova, M. N. (2017) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2017.01.011 · Cited by 743
Self-citationJun, G., Flickinger, M., Hetrick, K. N., Romm, J. M., Doheny, K. F., Abecasis, G. R., Boehnke, M., & Kang, H. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.09.004 · Cited by 484
What is Bioinformatics? A Proposed Definition and Overview of the Field
Luscombe, N. M., Greenbaum, D., & Gerstein, M. (2001) · Methods of Information in Medicine · doi:10.1055/s-0038-1634431 · Cited by 453
Cited by
Chiu, C. Y., & Miller, S. A. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0113-7 · Cited by 1,620
Clinical Metagenomic Next-Generation Sequencing for Pathogen Detection
Gu, W., Miller, S., & Chiu, C. Y. (2019) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012418-012751 · Cited by 1,458
Best practices for benchmarking germline small-variant calls in human genomes
the Global Alliance for Genomics and Health Benchmarking Team, Krusche, P., Trigg, L., Boutros, P. C., Mason, C. E., De La Vega, F. M., Moore, B. L., Gonzalez-Porta, M., Eberle, M. A., Tezak, Z., et al. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0054-x · Cited by 429
Chakravarty, D., Johnson, A., Sklar, J., Lindeman, N. I., Moore, K., Ganesan, S., Lovly, C. M., Perlmutter, J., Gray, S. W., Hwang, J., et al. (2022) · Journal of Clinical Oncology · doi:10.1200/jco.21.02767 · Cited by 266
Olson, N. D., Wagner, J., McDaniel, J., Stephens, S. H., Westreich, S. T., Prasanna, A. G., Johanson, E., Boja, E., Maier, E. J., Serang, O., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100129 · Cited by 202
Metadata
- Authors
- Roy, S., Coldren, C., Karunamurthy, A., Kip, N. S., Klee, E. W., Lincoln, S. E., Leon, A., Pullambhatla, M., Temple-Smolkin, R. L., Voelkerding, K. V., Wang, C., & Carter, A. B.
- Venue
- The Journal of Molecular Diagnostics
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 20
- Issue
- 1
- Pages
- 4-27
- ISSN
- 1525-1578 (ISSN-L)
- OpenAlex
- W2769420359
- Cited by
- 469
- References
- 37
- FWCI
- 25.37
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines. https://app.cochat.ai/papers/10.1016/j.jmoldx.2017.11.003
- The paper
- Roy, S., Coldren, C., Karunamurthy, A., Kip, N. S., Klee, E. W., Lincoln, S. E., Leon, A., Pullambhatla, M., Temple-Smolkin, R. L., Voelkerding, K. V., Wang, C., & Carter, A. B. (2018). Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines. The Journal of Molecular Diagnostics. https://doi.org/10.1016/j.jmoldx.2017.11.003
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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.
