Dataset Information

Applying Multivariate Discrete Distributions to Genetically Informative Count Data.

ABSTRACT: We present a novel method of conducting biometric analysis of twin data when the phenotypes are integer-valued counts, which often show an L-shaped distribution. Monte Carlo simulation is used to compare five likelihood-based approaches to modeling: our multivariate discrete method, when its distributional assumptions are correct, when they are incorrect, and three other methods in common use. With data simulated from a skewed discrete distribution, recovery of twin correlations and proportions of additive genetic and common environment variance was generally poor for the Normal, Lognormal and Ordinal models, but good for the two discrete models. Sex-separate applications to substance-use data from twins in the Minnesota Twin Family Study showed superior performance of two discrete models. The new methods are implemented using R and OpenMx and are freely available.

SUBMITTER: Kirkpatrick RM

PROVIDER: S-EPMC4752908 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Applying Multivariate Discrete Distributions to Genetically Informative Count Data.

Kirkpatrick Robert M RM Neale Michael C MC

Behavior genetics 20151024 2

We present a novel method of conducting biometric analysis of twin data when the phenotypes are integer-valued counts, which often show an L-shaped distribution. Monte Carlo simulation is used to compare five likelihood-based approaches to modeling: our multivariate discrete method, when its distributional assumptions are correct, when they are incorrect, and three other methods in common use. With data simulated from a skewed discrete distribution, recovery of twin correlations and proportions ...[more]

PMID: 26497008

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Project description:The often-used A(C)E model that decomposes phenotypic variance into parts due to additive genetic and environmental influences can be extended to a longitudinal model when the trait has been assessed at multiple occasions. This enables inference about the nature (e.g., genetic or environmental) of the covariance among the different measurement points. In the case that the measurement of the phenotype relies on self-report data (e.g., questionnaire data), often, aggregated scores (e.g., sum-scores) are used as a proxy for the phenotype. However, earlier research based on the univariate ACE model that concerns a single measurement occasion has shown that this can lead to an underestimation of heritability and that instead, one should prefer to model the raw item data by integrating an explicit measurement model into the analysis. This has, however, not been translated to the more complex longitudinal case. In this paper, we first present a latent state twin A(C)E model that combines the genetic twin model with an item response theory (IRT) model as well as its specification in a Bayesian framework. Two simulation studies were conducted to investigate 1) how large the bias is when sum-scores are used in the longitudinal A(C)E model and 2) if using the latent twin model can overcome the potential bias. Results of the first simulation study (e.g., AE model) demonstrated that using a sum-score approach leads to underestimated heritability estimates and biased covariance estimates. Surprisingly, the IRT approach also lead to bias, but to a much lesser degree. The amount of bias increased in the second simulation study (e.g., ACE model) under both frameworks, with the IRT approach still being the less biased approach. Since the bias was less severe under the IRT approach than under the sum-score approach and due to other advantages of latent variable modelling, we still advise researcher to adopt the IRT approach. We further illustrate differences between the traditional sum-score approach and the latent state twin A(C)E model by analyzing data of a two-wave twin study, consisting of the answers of 8,016 twins on a scale developed to measure social attitudes related to conservatism.

Project description:BackgroundTime-resolved quantification of physical activity can contribute to both personalized medicine and epidemiological research studies, for example, managing and identifying triggers of asthma exacerbations. A growing number of reportedly accurate machine learning algorithms for human activity recognition (HAR) have been developed using data from wearable devices (eg, smartwatch and smartphone). However, many HAR algorithms depend on fixed-size sampling windows that may poorly adapt to real-world conditions in which activity bouts are of unequal duration. A small sliding window can produce noisy predictions under stable conditions, whereas a large sliding window may miss brief bursts of intense activity.ObjectiveWe aimed to create an HAR framework adapted to variable duration activity bouts by (1) detecting the change points of activity bouts in a multivariate time series and (2) predicting activity for each homogeneous window defined by these change points.MethodsWe applied standard fixed-width sliding windows (4-6 different sizes) or greedy Gaussian segmentation (GGS) to identify break points in filtered triaxial accelerometer and gyroscope data. After standard feature engineering, we applied an Xgboost model to predict physical activity within each window and then converted windowed predictions to instantaneous predictions to facilitate comparison across segmentation methods. We applied these methods in 2 datasets: the human activity recognition using smartphones (HARuS) dataset where a total of 30 adults performed activities of approximately equal duration (approximately 20 seconds each) while wearing a waist-worn smartphone, and the Biomedical REAl-Time Health Evaluation for Pediatric Asthma (BREATHE) dataset where a total of 14 children performed 6 activities for approximately 10 min each while wearing a smartwatch. To mimic a real-world scenario, we generated artificial unequal activity bout durations in the BREATHE data by randomly subdividing each activity bout into 10 segments and randomly concatenating the 60 activity bouts. Each dataset was divided into ~90% training and ~10% holdout testing.ResultsIn the HARuS data, GGS produced the least noisy predictions of 6 physical activities and had the second highest accuracy rate of 91.06% (the highest accuracy rate was 91.79% for the sliding window of size 0.8 second). In the BREATHE data, GGS again produced the least noisy predictions and had the highest accuracy rate of 79.4% of predictions for 6 physical activities.ConclusionsIn a scenario with variable duration activity bouts, GGS multivariate segmentation produced smart-sized windows with more stable predictions and a higher accuracy rate than traditional fixed-size sliding window approaches. Overall, accuracy was good in both datasets but, as expected, it was slightly lower in the more real-world study using wrist-worn smartwatches in children (BREATHE) than in the more tightly controlled study using waist-worn smartphones in adults (HARuS). We implemented GGS in an offline setting, but it could be adapted for real-time prediction with streaming data.

Dataset Information

Applying Multivariate Discrete Distributions to Genetically Informative Count Data.

Publications

Applying Multivariate Discrete Distributions to Genetically Informative Count Data.

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