2018-11-01
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Publication
Publication
Nature Genetics , Volume 50 - Issue 11 p. 1505- 1513
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we
(i) extend the inventory of T2D-risk variants;
(ii) enrich discovery of lower-frequency risk alleles;
(iii) substantially improve fine-mapping of causal variants;
(iv) extend fine-mapping through integration of tissue-specific epigenomic information;
(v) highlight validated therapeutic targets; and
(vi) demonstrate enhanced potential for clinical translation
| Additional Metadata | |
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| doi.org/10.1038/s41588-018-0241-6, hdl.handle.net/1765/112372 | |
| Nature Genetics | |
| Organisation | Department of Epidemiology |
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Mahajan, A., Taliun, D., Thurner, M., Robertson, N., Torres, J., Rayner, N. W., … McCarthy, M. (2018). Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nature Genetics, 50(11), 1505–1513. doi:10.1038/s41588-018-0241-6 |
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