Determining the incidence of rare diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-020-02135-5.pdf
Reference12 articles.
1. Browning SR, Thompson EA (2012) Detecting rare variant associations by identity-by-descent mapping in case-control studies. Genetics 190:1521–1531. https://doi.org/10.1534/genetics.111.136937
2. Cannizzo S, Lorenzoni V, Palla I et al (2018) Rare diseases under different levels of economic analysis: current activities, challenges and perspectives. RMD Open. https://doi.org/10.1136/rmdopen-2018-000794
3. Cohen AC Jr (1960) Estimating the parameters of a modified poisson distribution. J Am Stat Assoc 55:139–143. https://doi.org/10.1080/01621459.1960.10482054
4. Grier J, Hirano M, Karaa A et al (2018) Diagnostic odyssey of patients with mitochondrial disease: results of a survey. Neurol Genet 4:e230. https://doi.org/10.1212/NXG.0000000000000230
5. Hardy GH (2003) Mendelian proportions in a mixed population. 1908. Yale J Biol Med 76:79–80
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