The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Diagnostic Clinical Genome and Exome Sequencing
Abstract
The use of clinical genome and exome sequencing for genetic diagnosis has grown substantially. This review provides guidance for clinicians seeking diagnostic confirmation of a disease suspected to be genetic in origin.
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
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,541
Self-citationThe impact of next-generation sequencing technology on genetics
Mardis, E. R. (2008) · Trends in Genetics · doi:10.1016/j.tig.2007.12.007 · Cited by 2,053
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
Guidelines for investigating causality of sequence variants in human disease
MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224
Self-citationThe Next-Generation Sequencing Revolution and Its Impact on Genomics
Koboldt, D. C., Steinberg, K. M., Larson, D. E., Wilson, R. K., & Mardis, E. R. (2013) · Cell · doi:10.1016/j.cell.2013.09.006 · Cited by 1,037
Worthey, E. A., Mayer, A. N., Syverson, G. D., Helbling, D., Bonacci, B. B., Decker, B., Serpe, J. M., Dasu, T., Tschannen, M. R., Veith, R. L., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182088158 · Cited by 711
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.006 · Cited by 385
Disease-targeted sequencing: a cornerstone in the clinic
Rehm, H. L. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3463 · Cited by 377
Exome sequencing: the sweet spot before whole genomes
Teer, J. K., & Mullikin, J. C. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq333 · Cited by 303
Cited by
Targeting neoantigens to augment antitumour immunity
Yarchoan, M., Johnson, B. A., Lutz, E. R., Laheru, D. A., & Jaffee, E. M. (2017) · Nature Reviews Cancer · doi:10.1038/nrc.2016.154 · Cited by 997
Piercing the dark matter: bioinformatics of long-range sequencing and mapping
Sedlazeck, F. J., Lee, H., Darby, C. A., & Schatz, M. C. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0003-4 · Cited by 530
Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452
“WES has identified 100 genes for ASD and an increased ‘‘burden’’ of rare, protein-altering genetic variation differing between cases and controls in SCZ and a few other disorders (Biesecker and Green, 2014; Warr et al. 2015).”
BackgroundGenetic identification of familial hypercholesterolemia within a single U.S. health care system
Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science · doi:10.1126/science.aaf7000 · Cited by 425
Helbig, K. L., Farwell Hagman, K. D., Shinde, D. N., Mroske, C., Powis, Z., Li, S., Tang, S., & Helbig, I. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.186 · Cited by 363
Metadata
- Authors
- Biesecker, L. G., & Green, R. C.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2014-06-19
- Volume
- 370
- Issue
- 25
- Pages
- 2418-2425
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2004136968
- Cited by
- 607
- References
- 17
- FWCI
- 57.85
- 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: Diagnostic Clinical Genome and Exome Sequencing. https://app.cochat.ai/papers/10.1056/nejmra1312543
- The paper
- Biesecker, L. G., & Green, R. C. (2014). Diagnostic Clinical Genome and Exome Sequencing. New England Journal of Medicine. https://doi.org/10.1056/nejmra1312543
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.
