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Human genetics and genomics

Improving estimates of loss-of-function constraint for short genes

Nature Genetics volume 56, pages 1544–1545 (2024)Cite this article

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Genetic constraint identifies genes under selection against loss-of-function, but existing methods are inaccurate for shorter genes. A new study overcomes this key limitation to ascribe more confident predictions to all human protein-coding genes.

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Fig. 1: A machine-learning model incorporating gene features improves genetic constraint estimates for short genes.

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Acknowledgements

N.W. is supported by a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (220134/Z/20/Z).

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  1. Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford, UK

    Nicola Whiffin

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  1. Nicola Whiffin
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Correspondence to Nicola Whiffin.

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Competing interests

N.W. receives research funding from Novo Nordisk and has consulted for ArgoBio studio.

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Whiffin, N. Improving estimates of loss-of-function constraint for short genes. Nat Genet 56, 1544–1545 (2024). https://doi.org/10.1038/s41588-024-01829-0

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