ArticleNature biotechnology2016
Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.
Article in Nature biotechnology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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
28 citing papers in PubMed.
- A Survey on AI-Driven Mouse Behavior Analysis Applications and Solutions.Bioengineering (Basel, Switzerland) · 2024Review
- A phenomics approach reveals interspecific differences in integrated developmental responses to chronic elevated temperatures.The Journal of experimental biology · 2023Article
- Phenomic Studies on Diseases: Potential and Challenges.Phenomics (Cham, Switzerland) · 2023Review
- Neuronal and astrocytic contributions to Huntington's disease dissected with zinc finger protein transcriptional repressors.Cell reports · 2023Article
- Comparative phenomics: a new approach to study heterochrony.Frontiers in physiology · 2023Article
- Enrichment analysis of phenotypic data for drug repurposing in rare diseases.Frontiers in pharmacology · 2023Article
- Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model.JCI insight · 2022Article
- Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in Huntington's disease.Genes & diseases · 2022Article
- Differentiating the Neuropharmacological Properties of Nicotinic Acetylcholine Receptor-Activating Alkaloids.Frontiers in pharmacology · 2022Article
- Single-Nucleus RNA-Seq Reveals Dysregulation of Striatal Cell Identity Due to Huntington's Disease Mutations.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Spectral phenotyping of embryonic development reveals integrative thermodynamic responses.BMC bioinformatics · 2021Article
- Huntington's disease mouse models: unraveling the pathology caused by CAG repeat expansion.Faculty reviews · 2021Review
- Translational animal models for Alzheimer's disease: An Alzheimer's Association Business Consortium Think Tank.Alzheimer's & dementia (New York, N. Y.) · 2020Article
- Genetic cooperativity in multi-layer networks implicates cell survival and senescence in the striatum of Huntington's disease mice synchronous to symptoms.Bioinformatics (Oxford, England) · 2020Article
- Deep representation learning of electronic health records to unlock patient stratification at scale.NPJ digital medicine · 2020Article
- Rapid and robust patterns of spontaneous locomotor deficits in mouse models of Huntington's disease.PloS one · 2020Article
- Precision epidemiology for infectious disease control.Nature medicine · 2019Review
- A high-throughput and open-source platform for embryo phenomics.PLoS biology · 2018Article
- Transcriptional regulatory networks underlying gene expression changes in Huntington's disease.Molecular systems biology · 2018Article
- Progress in developing transgenic monkey model for Huntington's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
Corrections and comments
- Commented on by
Authors and funding
25 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rapid technological advances for the frequent monitoring of health parameters have raised the intriguing possibility that an individual's genotype could be predicted from phenotypic data alone. Here we used a machine learning approach to analyze the phenotypic effects of polymorphic mutations in a mouse model of Huntington's disease that determine disease presentation and age of onset. The resulting model correlated variation across 3,086 behavioral traits with seven different CAG-repeat lengths in the huntingtin gene (Htt). We selected behavioral signatures for age and CAG-repeat length that most robustly distinguished between mouse lines and validated the model by correctly predicting the repeat length of a blinded mouse line. Sufficient discriminatory power to accurately predict genotype required combined analysis of >200 phenotypic features. Our results suggest that autosomal dominant disease-causing mutations could be predicted through the use of subtle behavioral signatures that emerge in large-scale, combinatorial analyses. Our work provides an open data platform that we now share with the research community to aid efforts focused on understanding the pathways that link behavioral consequences to genetic variation in Huntington's disease.
Indexed as
Identifiers
27376585What 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.