Segregation analysis with uncertain ascertainment: Application to Fanconi anemia Journal Article
| Authors: | Rogatko, A.; Auerbach, A. D. |
| Article Title: | Segregation analysis with uncertain ascertainment: Application to Fanconi anemia |
| Abstract: | A Bayesian solution for making inferences about segregation parameters with no information about the ascertainment is presented. Inferences about the segregation probability and the probability of being sporadic are made through the posterior marginal distribution of these parameters after integrating out the ascertainment probability, the nuisance parameter. The method was tested with real and simulated data and performed well. Original Fanconi anemia data, for which no information about the ascertainment was available, were then analyzed, with results that confirmed a monogenic autosomal recessive mode of inheritance. |
| Keywords: | heredity; bayes theorem; biological model; cystic fibrosis; models, genetic; fanconi anemia; autosomal dominant inheritance; gene segregation; anemia, aplastic; genes, recessive; human; support, non-u.s. gov't; support, u.s. gov't, p.h.s.; ascertainment |
| Journal Title: | American Journal of Human Genetics |
| Volume: | 42 |
| Issue: | 6 |
| ISSN: | 0002-9297 |
| Publisher: | Cell Press |
| Date Published: | 1988-06-01 |
| Start Page: | 889 |
| End Page: | 897 |
| Language: | English |
| PUBMED: | 3369448 |
| PROVIDER: | scopus |
| PMCID: | PMC1715212 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 6 August 2020 -- Source: Scopus |
