ArticleStatistics in medicine2010
Evaluating diagnostic accuracy of genetic profiles in affected offspring families.
Article in Statistics in medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- Dietary folic acid intake, 13 genetic variants and other factors with red blood cell folate concentration in pregnancy-preparing population.European journal of nutrition · 2024Article
- Development of a Genetic Risk Score to predict the risk of overweight and obesity in European adolescents from the HELENA study.Scientific reports · 2021Article
- Machine Learning SNP Based Prediction for Precision Medicine.Frontiers in genetics · 2019Review
- Allelic interaction effects of DNA damage and repair genes on the predisposition to age-related cataract.PloS one · 2018Article
- Evaluation of genetic risk score models in the presence of interaction and linkage disequilibrium.Frontiers in genetics · 2013Article
- Risk estimation and risk prediction using machine-learning methods.Human genetics · 2012Review
- A new explained-variance based genetic risk score for predictive modeling of disease risk.Statistical applications in genetics and molecular biology · 2012Article
- Autism risk assessment in siblings of affected children using sex-specific genetic scores.Molecular autism · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Diagnostic accuracy of a genetic test involving multiple disease genes is evaluated using sensitivity and specificity. For estimation, data from both affected and unaffected subjects are required. For early onset diseases, such as autism spectrum disorder (ASD), only data from families with affected offspring are available. To enable estimation of specificity when no data for unaffected offspring are available (single affected offspring, SAO, data), we combine the pseudocontrol method of Cordell and Clayton (Am. J. Hum. Genet. 2002; 70:124-141) with the approach of DeLong et al. (Biometrics 1985; 41:947-958) in a logistic regression model for disease outcome with a risk score (RS) constructed from genotype information as prognostic variable. The area under the receiver operating characteristic curve (AUC) is then computed using the non-parametric Mann-Whitney method. Extensive simulation studies show that, analogous to other approaches utilizing pseudocontrols, the resulting estimates of AUC using SAO data are slightly conservative when compared with the estimates computed using the full population-based data. The method is illustrated using data from a study of ASD.
Indexed as
Identifiers
What OpenQuestion holds
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.