ArticleAmerican journal of human genetics2003
Informative missingness in genetic association studies: case-parent designs.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 68 citations in OpenAlex.
- KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies.American journal of human genetics · 2024Article
- Leveraging informative missing data to learn about acute respiratory distress syndrome and mortality in long-term hospitalized COVID-19 patients throughout the years of the pandemic.medRxiv : the preprint server for health sciences · 2023Article
- Informative missingness: What can we learn from patterns in missing laboratory data in the electronic health record?Journal of biomedical informatics · 2023Article
- Leveraging informative missing data to learn about acute respiratory distress syndrome and mortality in long-term hospitalized COVID-19 patients throughout the years of the pandemic.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2023Article
- Observability and its impact on differential bias for clinical prediction models.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Rare variant association analysis in case-parents studies by allowing for missing parental genotypes.BMC genetics · 2018Article
- Article
- Association analysis of complex diseases using triads, parent-child dyads and singleton monads.BMC genetics · 2013Article
- Power analysis of C-TDT for small sample size genome-wide association studies by the joint use of case-parent trios and pairs.Computational and mathematical methods in medicine · 2013Article
- Dosage transmission disequilibrium test (dTDT) for linkage and association detection.PloS one · 2013Article
- Family-based association tests using genotype data with uncertainty.Biostatistics (Oxford, England) · 2012Article
- Handling missing data in transmission disequilibrium test in nuclear families with one affected offspring.PloS one · 2012Article
- Reducing bias of allele frequency estimates by modeling SNP genotype data with informative missingness.Frontiers in genetics · 2012Article
- Missingness in the T1DGC MHC fine-mapping SNP data: association with HLA genotype and potential influence on genetic association studies.Diabetes, obesity & metabolism · 2009Article
- Detection of parent-of-origin effects based on complete and incomplete nuclear families with multiple affected children.Human heredity · 2009Article
- Detection of parent-of-origin effects in complete and incomplete nuclear families with multiple affected children using multiple tightly linked markers.Human heredity · 2009Article
- Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls.Genetic epidemiology · 2009Article
- Modeling Informatively Missing Genotypes in Haplotype Analysis.Communications in statistics: theory and methods · 2009Article
- On combining triads and unrelated subjects data in candidate gene studies: an application to data on testicular cancer.Human heredity · 2009Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We consider the effect of informative missingness on association tests that use parental genotypes as controls and that allow for missing parental data. Parental data can be informatively missing when the probability of a parent being available for study is related to that parent's genotype; when this occurs, the distribution of genotypes among observed parents is not representative of the distribution of genotypes among the missing parents. Many previously proposed procedures that allow for missing parental data assume that these distributions are the same. We propose association tests that behave well when parental data are informatively missing, under the assumption that, for a given trio of paternal, maternal, and affected offspring genotypes, the genotypes of the parents and the sex of the missing parents, but not the genotype of the affected offspring, can affect parental missingness. (This same assumption is required for validity of an analysis that ignores incomplete parent-offspring trios.) We use simulations to compare our approach with previously proposed procedures, and we show that if even small amounts of informative missingness are not taken into account, they can have large, deleterious effects on the performance of tests.
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Registered trials
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.