Construct · 1 fields · 1 citations

de novo mutation enrichment framework: a standalone construct

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

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de novo mutationenrichment framework1 CONSTRUCTDe novo mutationSAMOCHA · MEDICAL GENETICS

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Medical genetics

a model giving each gene an expected rate of new mutations from sequence context, used to test whether patients carry more new mutations than chance predicts.

In medical genetics, de novo mutation enrichment framework refers to a model giving each gene an expected rate of new mutations from sequence context, used to test whether patients carry more new mutations than chance predicts. This meaning comes from Samocha (2014) in Nature Genetics.[1]

Unit
Recovery means
Measured by

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Nearby constructs

gene mutational constraint1 fields · 1 citationsanchor · a standalone constructcarry1 fields · 1 citationsanchor · a standalone constructchance4 fields · 6 citationsjingle · one word, four constructs

References

  1. Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., Wall, D. P., MacArthur, D. G., Gabriel, S. B., DePristo, M., Purcell, S. M., Palotie, A., Boerwinkle, E., Buxbaum, J. D., Cook, E. H., Gibbs, R. A., Schellenberg, G. D., Sutcliffe, J. S., Devlin, B., Roeder, K., Neale, B. M., & Daly, M. J. (2014). A framework for the interpretation of de novo mutation in human disease. Nature Genetics, 46(9), 944-950. https://doi.org/10.1038/ng.3050

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