Construct · 1 fields · 1 citations

ClinGen gene-disease clinical validity: a standalone construct

One name. One construct. A landmark on the map.

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ClinGen gene-diseaseclinical validity1 CONSTRUCTClinGen gene-diseaseSTRANDE · MEDICAL GENETICS

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Medical genetics

a semiquantitative framework grading the evidence that variation in a gene causes a disease, from definitive to refuted.

In medical genetics, ClinGen gene-disease clinical validity refers to a semiquantitative framework grading the evidence that variation in a gene causes a disease, from definitive to refuted. This meaning comes from Strande (2017) in The American Journal of Human Genetics.[1]

Unit
Recovery means
Measured by

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Nearby constructs

evidence2 fields · 4 citationsjingle · one word, two constructsvalidity6 fields · 10 citationsjingle · one name, six constructsvariation4 fields · 7 citationsjingle · one word, four constructs

References

  1. Strande, N. T., Riggs, E. R., Buchanan, A. H., Ceyhan-Birsoy, O., DiStefano, M., Dwight, S. S., Goldstein, J., Ghosh, R., Seifert, B. A., Sneddon, T. P., Wright, M. W., Milko, L. V., Cherry, J. M., Giovanni, M. A., Murray, M. F., O’Daniel, J. M., Ramos, E. M., Santani, A. B., Scott, A. F., Plon, S. E., Rehm, H. L., Martin, C. L., & Berg, J. S. (2017). Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. The American Journal of Human Genetics, 100(6), 895-906. https://doi.org/10.1016/j.ajhg.2017.04.015

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