Construct · 1 fields · 1 citations

dosage sensitivity: a standalone construct

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

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dosagesensitivity1 CONSTRUCTDosage sensitivityCOLLINS · MEDICAL GENETICS

A single standalone construct; nearby constructs are located against it in the Collider. Tap a field for its definition, unit, and measures.

Medical genetics

the degree to which a gene causes disease when its copy number falls below or rises above two, estimated genome-wide from copy-number data.

In medical genetics, dosage sensitivity refers to the degree to which a gene causes disease when its copy number falls below or rises above two, estimated genome-wide from copy-number data. This meaning comes from Collins (2022) in Cell.[1]

Unit
Recovery means
Measured by

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Nearby constructs

cell2 fields · 3 citationsjingle · one word, two constructsdegree1 fields · 1 citationsanchor · a standalone constructnumber3 fields · 6 citationsjingle · one word, three constructs

References

  1. Collins, R. L., Glessner, J. T., Porcu, E., Lepamets, M., Brandon, R., Lauricella, C., Han, L., Morley, T., Niestroj, L., Ulirsch, J., Everett, S., Howrigan, D. P., Boone, P. M., Fu, J., Karczewski, K. J., Kellaris, G., Lowther, C., Lucente, D., Mohajeri, K., Nõukas, M., Nuttle, X., Samocha, K. E., Trinh, M., Ullah, F., Võsa, U., Metspalu, A., Mägi, R., Nelis, M., Milani, L., Esko, T., Hurles, M. E., Aradhya, S., Davis, E. E., Finucane, H., Gusella, J. F., Janze, A., Katsanis, N., Matyakhina, L., Neale, B. M., Sanders, D., Warren, S., Hodge, J. C., Lal, D., Ruderfer, D. M., Meck, J., Mägi, R., Esko, T., Reymond, A., Kutalik, Z., Hakonarson, H., Sunyaev, S., Brand, H., & Talkowski, M. E. (2022). A cross-disorder dosage sensitivity map of the human genome. Cell, 185(16), 3041-3055.e25. https://doi.org/10.1016/j.cell.2022.06.036

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