ABSTRACT
Understanding the genetic basis of complex diseases is one of the most important challenges in current precision medicine. To this end, Genome-Wide Association Studies aim to correlate Single Nucleotide Polymorphisms (SNPs) to the presence or absence of certain traits. However, these studies do not consider interactions between several SNPs, known as epistasis, which explain most genetic diseases. Analyzing SNP combinations to detect epistasis is a major computational task, due to the enormous search space. A possible solution is to employ deep learning strategies for genomic prediction, but the lack of explainability derived from the black-box nature of neural networks is a challenge yet to be addressed. Herein, a novel, flexible, portable, and scalable framework for network interpretation based on transformers is proposed to tackle any-order epistasis. The results on various epistasis scenarios show that the proposed framework outperforms state-of-the-art methods for explainability, while being scalable to large datasets and portable to various deep learning accelerators. The proposed framework is validated on three WTCCC datasets, identifying SNPs related to genes known in the literature that have direct relationships with the studied diseases.
Subject(s)
Epistasis, Genetic , Genome-Wide Association Study , Polymorphism, Single Nucleotide , Humans , Genome-Wide Association Study/methods , Deep Learning , Neural Networks, Computer , Computational Biology/methods , AlgorithmsABSTRACT
Alterações fisiológicas que ocorrem no aparellho locomotor devido ao envelhecimento como perda de massa muscular, perda do equilíbrio corporal, diminuição da massa óssea e osteoartrose causam limitações às atividade da vida diária do idoso, comprometendo sua qualidade de vida e o tornando mais frágil e dependente. Idosos que realizam atividade física periodicamente tem melhor independência funcional e melhor qualidade de vida do que aquele sedentário. Esse artigo aborda as principais alterações fisiológica do processo de envelhecimento e realiza uma revisão da literatura atual sobre os efeitos que o exercício físico causa no aparelho locomotor do idoso, especificando qual a melhor forma de prescrever atividade física nessa faixa etária.
Physiological changes taking place on the locomotive apparatus as a result of aging, such as muscular mass loss, body balance loss, reduced bone mass and osteoarthrosis cause limitations to the daily activities of elderly people, compromising their quality of life and making them weaker and dependent. Aged people who regularly practice physical activities have a higher level of functional independence and a better quality of life than the sedentary ones. This article addresses the key physiological changes with aging and provides a review of current literature about the effects of physical exercises on the locomotive apparatus of elderly individuals, specifying the best ways to prescribe physical exercises to this age group.
Subject(s)
Humans , Male , Female , Aged , Aging , Motor Activity/physiology , Exercise , Health of the ElderlyABSTRACT
Physiological changes taking place on the locomotive apparatus as a result of aging, such as muscular mass loss, body balance loss, reduced bone mass and osteoarthrosis cause limitations to the daily activities of elderly people, compromising their quality of life and making them weaker and dependent. Aged people who regularly practice physical activities have a higher level of functional independence and a better quality of life than the sedentary ones. This article addresses the key physiological changes with aging and provides a review of current literature about the effects of physical exercises on the locomotive apparatus of elderly individuals, specifying the best ways to prescribe physical exercises to this age group.
