Summary
Two models of ascertainment have been reviewed and maximum likelihood estimates of probabilities are given. Simple formulae were derived for the model of multiple sources of ascertainment per proband. Numerical tables were prepared for the model of proband distribution among affected siblings with illustrative examples. Discussions were made on the ascertainment probability pertaining to the indirect estimation of prevalence as well as incidence of rare diseases.
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Supported in part by grants from Ministry of Health and Welfare, Japan.
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Yasuda, N. Estimation of the ascertainment probability of rare diseases. Jap J Human Genet 24, 265–291 (1979). https://doi.org/10.1007/BF01907827
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DOI: https://doi.org/10.1007/BF01907827
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