Dataset Information

PAST: The Pathway Association Studies Tool to Infer Biological Meaning from GWAS Datasets.

ABSTRACT: In recent years, a bioinformatics method for interpreting genome-wide association study (GWAS) data using metabolic pathway analysis has been developed and successfully used to find significant pathways and mechanisms explaining phenotypic traits of interest in plants. However, the many scripts implementing this method were not straightforward to use, had to be customized for each project, required user supervision, and took more than 24 h to process data. PAST (Pathway Association Study Tool), a new implementation of this method, has been developed to address these concerns. PAST has been implemented as a package for the R language. Two user-interfaces are provided; PAST can be run by loading the package in R and calling its methods, or by using an R Shiny guided user interface. In testing, PAST completed analyses in approximately half an hour to one hour by processing data in parallel and produced the same results as the previously developed method. PAST has many user-specified options for maximum customization. Thus, to promote a powerful new pathway analysis methodology that interprets GWAS data to find biological mechanisms associated with traits of interest, we developed a more accessible, efficient, and user-friendly tool. These attributes make PAST accessible to researchers interested in associating metabolic pathways with GWAS datasets to better understand the genetic architecture and mechanisms affecting phenotypes.

SUBMITTER: Thrash A

PROVIDER: S-EPMC7020396 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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PAST: The Pathway Association Studies Tool to Infer Biological Meaning from GWAS Datasets.

Thrash Adam A Tang Juliet D JD DeOrnellis Mason M Peterson Daniel G DG Warburton Marilyn L ML

Plants (Basel, Switzerland) 20200102 1

In recent years, a bioinformatics method for interpreting genome-wide association study (GWAS) data using metabolic pathway analysis has been developed and successfully used to find significant pathways and mechanisms explaining phenotypic traits of interest in plants. However, the many scripts implementing this method were not straightforward to use, had to be customized for each project, required user supervision, and took more than 24 h to process data. PAST (Pathway Association Study Tool), ...[more]

PMID: 31906457

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Project description:Capture-recapture (CR) models are an essential tool for estimating demographic parameters in most animal and some plant populations. To avoid drawing incorrect conclusions in any statistical inference, a crucial prerequisite is to assess the goodness of fit of a general model to the data. In CR models, a frequent cause of lack of fit, is the so-called transience effect, which is due to a lower expectation of re-observation of individuals marked for the first time as compared to other individuals. The transience effect may result either from different biological causes or from the sampling procedure. A transience effect is usually treated by distinguishing at least two age-classes in the survival probability, but other approaches may be more suitable. Here we develop a conceptual and analytical framework for including a transience effect in capture-recapture models. We show the implementation of two additional parametrizations that incorporate a transience effect. With these parametrizations, we can directly estimate the "transience probability" defined as the probability that a newly caught individual disappear from the population beyond what is expected based on the behavior of the previously caught individuals in the same sample. Additionally, these parametrizations allow testing biological hypotheses concerning drivers affecting this probability. Results from our case study show differences between parametrizations, with the parametrization most currently used giving different estimates, especially when including covariates. We advocate for a unifying framework for treating a transience effect, that helps clarifying the ideas and terminology, and where the biological reasons should be the rule for choosing the appropriate analytical procedure. This framework will also open new and powerful ways for the detection and exploration of ecological processes such as the costs of the first reproduction or the deleterious effects of some types of marking.

Dataset Information

PAST: The Pathway Association Studies Tool to Infer Biological Meaning from GWAS Datasets.

Publications

PAST: The Pathway Association Studies Tool to Infer Biological Meaning from GWAS Datasets.

Similar Datasets

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