Construct · 1 fields · 1 citations

SpliceAI: a standalone construct

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

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Medical genetics

a deep learning model that predicts from sequence alone whether a variant creates or disrupts a splice site, reported as delta scores.

In medical genetics, SpliceAI refers to a deep learning model that predicts from sequence alone whether a variant creates or disrupts a splice site, reported as delta scores. This meaning comes from Jaganathan (2019) in Cell.[1]

Unit
Recovery means
Measured by

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Nearby constructs

cell2 fields · 3 citationsjingle · one word, two constructs deep learning1 fields · 1 citationsanchor · a standalone construct delta3 fields · 4 citationsjingle · one word, three constructs

References

Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J. F., Darbandi, S. F., Knowles, D., Li, Y. I., Kosmicki, J. A., Arbelaez, J., Cui, W., Schwartz, G. B., Chow, E. D., Kanterakis, E., Gao, H., Kia, A., Batzoglou, S., Sanders, S. J., & Farh, K. K. (2019). Predicting Splicing from Primary Sequence with Deep Learning. Cell, 176(3), 535-548.e24. https://doi.org/10.1016/j.cell.2018.12.015

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