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 biological variable


evolSOM: an R Package for evolutionary conservation analysis with SOMs

Prochetto, Santiago, Reinheimer, Renata, Stegmayer, Georgina

arXiv.org Artificial Intelligence

Motivation: Unraveling the connection between genes and traits is crucial for solving many biological puzzles. Genes provide instructions for building cellular machinery, directing the processes that sustain life. RNA molecules and proteins, derived from these genetic instructions, play crucial roles in shaping cell structures, influencing reactions, and guiding behavior. This fundamental biological principle links genetic makeup to observable traits, but integrating and extracting meaningful relationships from this complex, multimodal data presents a significant challenge. Results: We introduce evolSOM, a novel R package that utilizes Self-Organizing Maps (SOMs) to explore and visualize the conservation of biological variables, easing the integration of phenotypic and genotypic attributes. By constructing species-specific or condition-specific SOMs that capture non-redundant patterns, evolSOM allows the analysis of displacement of biological variables between species or conditions. Variables displaced together suggest membership in the same regulatory network, and the nature of the displacement may hold biological significance. The package automatically calculates and graphically presents these displacements, enabling efficient comparison and revealing conserved and displaced variables. The package facilitates the integration of diverse phenotypic data types, enabling the exploration of potential gene drivers underlying observed phenotypic changes. Its user-friendly interface and visualization capabilities enhance the accessibility of complex network analyses. Illustratively, we employed evolSOM to study the displacement of genes and phenotypic traits, successfully identifying potential drivers of phenotypic differentiation in grass leaves. Availability: The package is open-source and is available at https://github.com/sanprochetto/evolSOM.


Cross-Modal Health State Estimation

Nag, Nitish, Pandey, Vaibhav, Putzel, Preston J., Bhimaraju, Hari, Krishnan, Srikanth, Jain, Ramesh C.

arXiv.org Artificial Intelligence

Individuals create and consume more diverse data about themselves today than any time in history. Sources of this data include wearable devices, images, social media, geospatial information and more. A tremendous opportunity rests within cross-modal data analysis that leverages existing domain knowledge methods to understand and guide human health. Especially in chronic diseases, current medical practice uses a combination of sparse hospital based biological metrics (blood tests, expensive imaging, etc.) to understand the evolving health status of an individual. Future health systems must integrate data created at the individual level to better understand health status perpetually, especially in a cybernetic framework. In this work we fuse multiple user created and open source data streams along with established biomedical domain knowledge to give two types of quantitative state estimates of cardiovascular health. First, we use wearable devices to calculate cardiorespiratory fitness (CRF), a known quantitative leading predictor of heart disease which is not routinely collected in clinical settings. Second, we estimate inherent genetic traits, living environmental risks, circadian rhythm, and biological metrics from a diverse dataset. Our experimental results on 24 subjects demonstrate how multi-modal data can provide personalized health insight. Understanding the dynamic nature of health status will pave the way for better health based recommendation engines, better clinical decision making and positive lifestyle changes.