ArticleAmerican journal of human genetics2000
Bias and efficiency in family-based gene-characterization studies: conditional, prospective, retrospective, and joint likelihoods.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 5 of them syntheses that pooled it.
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Who cites it
45 citing papers in PubMed, 5 syntheses or guidelines pooled it.
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- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- Bayesian meta-analysis of penetrance for cancer risk.Biometrics · 2024Pooled it
- Statistical approaches for meta-analysis of genetic mutation prevalence.Genetic epidemiology · 2021Pooled it
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- PREDICTION OF HEREDITARY CANCERS USING NEURAL NETWORKS.The annals of applied statistics · 2022Article
- Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants inCancers · 2021Article
- Estimating the age at onset distribution of the asymptomatic stage of a genetic disease based on pedigree data.Statistical methods in medical research · 2020Article
- Penetrance of Colorectal Cancer Among Mismatch Repair Gene Mutation Carriers: A Meta-Analysis.JNCI cancer spectrum · 2020Review
- Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?Familial cancer · 2020Article
- Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome.Biostatistics (Oxford, England) · 2020Article
- Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees.European journal of human genetics : EJHG · 2019Article
- Bayesian Semiparametric Estimation of Cancer-specific Age-at-onset Penetrance with Application to Li-Fraumeni Syndrome.Journal of the American Statistical Association · 2019Article
- Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.International journal of cancer · 2016Article
- Human Birth Weight and Reproductive Immunology: Testing for Interactions between Maternal and Offspring KIR and HLA-C Genes.Human heredity · 2016Article
- Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.Gastroenterology · 2015Article
- Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.Breast cancer research and treatment · 2014Article
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2 authors.
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Abstract
We revisit the usual conditional likelihood for stratum-matched case-control studies and consider three alternatives that may be more appropriate for family-based gene-characterization studies: First, the prospective likelihood, that is, Pr(D/G,A second, the retrospective likelihood, Pr(G/D); and third, the ascertainment-corrected joint likelihood, Pr(D,G/A). These likelihoods provide unbiased estimators of genetic relative risk parameters, as well as population allele frequencies and baseline risks. The parameter estimates based on the retrospective likelihood remain unbiased even when the ascertainment scheme cannot be modeled, as long as ascertainment only depends on families' phenotypes. Despite the need to estimate additional parameters, the prospective, retrospective, and joint likelihoods can lead to considerable gains in efficiency, relative to the conditional likelihood, when estimating genetic relative risk. This is true if baseline risks and allele frequencies can be assumed to be homogeneous. In the presence of heterogeneity, however, the parameter estimates assuming homogeneity can be seriously biased. We discuss the extent of this problem and present a mixed models approach for providing consistent parameter estimates when baseline risks and allele frequencies are heterogeneous. The efficiency gains of the mixed-model prospective, retrospective, and joint likelihoods relative to the efficiency of conditional likelihood are small in the situations presented here.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.