Journal article

Evaluating and improving heritability models using summary statistics

Doug Speed, John Holmes, David J Balding

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2020

Abstract

There is currently much debate regarding the best model for how heritability varies across the genome. The authors of GCTA recommend the GCTA-LDMS-I model, the authors of LD Score Regression recommend the Baseline LD model, and we have recommended the LDAK model. Here we provide a statistical framework for assessing heritability models using summary statistics from genome-wide association studies. Based on 31 studies of complex human traits (average sample size 136,000), we show that the Baseline LD model is more realistic than other existing heritability models, but that it can be improved by incorporating features from the LDAK model. Our framework also provides a method for estimating the..

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Grants

Awarded by European Union's Horizon 2020 Research and Innovation Programme under the Marie Sklodowska-Curie grant


Awarded by Independent Research Fund Denmark


Awarded by Australian Research Council


Funding Acknowledgements

We thank B. Shaban for help with the LDAK website, and A. Price, S. Gazal and H. Finucane for helpful discussions. D.S. is funded by the European Union's Horizon 2020 Research and Innovation Programme under the Marie Sklodowska-Curie grant agreement no. 754513, by Aarhus University Research Foundation and by the Independent Research Fund Denmark under project no. 7025-00094B. D.S. and D.J.B. are funded by the Australian Research Council under project no. DP190103188.