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Sejal Patel

Publications and source records attributed to Sejal Patel.

2 recordsLinked to original sources

Semi-Automated Identification of Ontological Labels in the Biomedical Literature with goldi

Recent growth in both the scale and the scope of large publicly available ontologies has spurred the development of computational methodologies which can leverage structured information to answer important questions. However, ontological labels, or \"terms\" have thus far proved difficult to use in practice; text mining, one crucial aspect of electronically understanding and parsing the biomedical literature, has historically had difficulty identifying \"terms\" in literature. In this article, we present goldi, an open source R package whose goal it is to identify terms of variable length in free form text. It is available at https://github.com/Chris1221/goldi or through CRAN. The algorithm works through identifying words or synonyms of words present in individual terms and comparing the number of present words to an acceptance function for decision making. In this article we present the theoretical rationale behind the algorithm, as well as practical advice for its usage applied to Gene Ontology term identification and quantification. We additionally detail the options available and describe their respective computational efficiencies.

Bioinformatics

Novel bioinformatics approach to investigate quantitative phenotype-genotype associations in neuroimaging studies

Imaging genetics is an emerging field in which the association between genes and neuroimaging-based quantitative phenotypes are used to explore the functional role of genes in neuroanatomy and neurophysiology in the context of healthy function and neuropsychiatric disorders. The main obstacle for researchers in the field is the high dimensionality of the data in both the imaging phenotypes and the genetic variants commonly typed. In this article, we develop a novel method that utilizes Gene Ontology, an online database, to select and prioritize certain genes, employing a stratified false discovery rate (sFDR) approach to investigate their associations with imaging phenotypes. sFDR has the potential to increase power in genome wide association studies (GWAS), and is quickly gaining traction as a method for multiple testing correction. Our novel approach addresses both the pressing need in genetic research to move beyond candidate gene studies, while not being overburdened with a loss of power due to multiple testing. As an example of our methodology, we perform a GWAS of hippocampal volume using the Alzheimers Disease Neuroimaging Initiative sample.

Genetics