Identifying genetic subtypes of disease from hospital diagnosis records
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
https://www.nature.com/articles/s41588-023-01521-9.pdf
Reference5 articles.
1. Wang, K., Gaitsch, H., Poon, H., Cox, N. J. & Rzhetsky, A. Classification of common human diseases derived from shared genetic and environmental determinants. Nat. Genet. 49, 1319–1325 (2017). This paper uses diagnosis information from insurance claims to infer genetic and environmental correlation among 149 diseases.
2. Cortes, A., Albers, P. K., Dendrou, C. A., Fugger, L. & McVean, G. Identifying cross-disease components of genetic risk across hospital data in the UK Biobank. Nat. Genet. 52, 126–134 (2019). This paper uses 19,155 disease codes to improve power for identifying disease-associated single nucleotide polymorphisms.
3. Jia, G. et al. Discerning asthma endotypes through comorbidity mapping. Nat. Commun. 13, 1–19 (2022). This paper shows that individuals with asthma have heterogeneous comorbidity patterns that are associated with distinct genetic variants.
4. Siggaard, T. et al. Disease trajectory browser for exploring temporal, population-wide disease progression patterns in 7.2 million Danish patients. Nat. Commun. 11, 1–10 (2020). This paper demonstrates statistically significant directionality in comorbidity trajectories, using a longitudinal health registry.
5. Mansour Aly, D. et al. Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes. Nat. Genet. 53, 1534–1542 (2021). This paper identifies genetic variants that are uniquely associated with subtypes of type 2 diabetes.
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