ArticleJournal of probability and statistics2012
Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease.
Article in Journal of probability and statistics, 2012. 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
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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, 10 citations in OpenAlex.
- Sample enrichment for clinical trials to show delay of onset in huntington disease.Movement disorders : official journal of the Movement Disorder Society · 2019Trial
- Dynamic undirected graphical models for time-varying clinical symptom and neuroimaging networks.Statistics in medicine · 2024Article
- A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study.Neurology. Genetics · 2023Article
- Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.American journal of human genetics · 2022Article
- Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles.Movement disorders : official journal of the Movement Disorder Society · 2021Observational
- Statistical modeling of Huntington disease onset.Handbook of clinical neurology · 2017Review
- Predicting cumulative risk of disease onset by redistributing weights.Statistics in medicine · 2015Article
- Nonparametric modeling and analysis of association between Huntington's disease onset and CAG repeats.Statistics in medicine · 2014Article
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 at 4 institutions in 1 country.
Funding
Abstract
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of CAG repeats in the IT15 gene. The age-at-onset (AAO) of HD is inversely related to the CAG repeat length and the minimum length thought to cause HD is 36. Accurate estimation of the AAO distribution based on CAG repeat length is important for genetic counseling and the design of clinical trials. In the Cooperative Huntington's Observational Research Trial (COHORT) study, the CAG repeat length is known for the proband participants. However, whether a family member shares the huntingtin gene status (CAG expanded or not) with the proband is unknown. In this work, we use the expectation-maximization (EM) algorithm to handle the missing huntingtin gene information in first-degree family members in COHORT, assuming that a family member has the same CAG length as the proband if the family member carries a huntingtin gene mutation. We perform simulation studies to examine performance of the proposed method and apply the methods to analyze COHORT proband and family combined data. Our analyses reveal that the estimated cumulative risk of HD symptom onset obtained from the combined data is slightly lower than the risk estimated from the proband data alone.
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.