Computational Methods For Disease Diagnosis And Understanding The Genetics Of Complex Traits
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Computational Methods for Genetics of Complex Traits
The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in knowledge gained from genetics reasearch. This thematic volume of Advances in Genetics looks at Computational Methods for Genetics of Complex traits. - Explores the latest topics in neural circuits and behavior research in zebrafish, drosophila, C.elegans, and mouse models - Includes methods for testing with ethical, legal, and social implications - Critically analyzes future prospects
Computational Methods for Disease Diagnosis and Understanding the Genetics of Complex Traits
An ever increasing wealth of biological data has become available in recent years, and with it, the potential to understand complex traits and extract disease relevant information from these many forms of data through computational methods. Understanding the genetic architecture behind complex traits can help us understand disease risk and adverse drug reactions, and to guide the development of treatment strategies. Many variants identified by genome-wide association studies (GWAS) have been found to affect multiple traits, either directly or through shared pathways. Analyzing multiple traits at once can increase power to detect shared variant effects from publicly available GWAS summary statistics. Use of multiple traits may also improve accuracy when estimating variant effects, which can be used in polygenic scores to stratify individuals by disease risk. This dissertation presents a method, CONFIT, for combining GWAS in multiple traits for variant discovery, and explores a few potential multi-trait methods for estimating polygenic scores. Computational methods can also be used to identify patients already suffering from disease who would benefit from treatment. Towards this end, this dissertation also presents work on deep learning to detect patients with orbital disease from image data with high accuracy and recall.
PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR HEMOPHILIA
Living with a chronic condition like hemophilia is not just a physical challenge; it impacts every aspect of life—emotional, psychological, and social. Hemophilia, a genetic disorder affecting the blood’s ability to clot properly, requires individuals to navigate a complex web of medical treatments, lifestyle adjustments, and emotional hurdles. For many, the weight of managing a genetic condition can lead to feelings of isolation, anxiety, and depression. This book, "Psychological Support by Cognitive Behavioral Therapy for Hemophilia," was written with the purpose of providing a comprehensive approach to address not only the physical but also the psychological aspects of living with hemophilia. By merging insights from genetics, biology, and psychology, particularly through the lens of Cognitive Behavioral Therapy (CBT), this book seeks to empower individuals with hemophilia to develop coping strategies, manage emotional distress, and lead fulfilling lives despite their condition. Cognitive Behavioral Therapy has been widely recognized as an effective therapeutic approach for managing a variety of mental health challenges, and it offers valuable tools for those grappling with the emotional and psychological burdens of chronic illness. This book covers essential topics such as trauma, genetic counseling, independence in one’s genetic journey, and the practical application of CBT techniques. By addressing both the biological underpinnings of hemophilia and the cognitive and emotional toll it takes, this book aims to create a balanced and supportive guide for patients, caregivers, and mental health professionals alike. In the chapters that follow, we explore the intricate connection between mind and body, offering both theoretical knowledge and practical tools to manage the emotional impact of hemophilia. From learning how to manage pain and fatigue, to developing strategies for mental resilience and emotional regulation, this book is designed to be a go-to resource for anyone affected by hemophilia. It is my hope that this book provides a source of comfort, guidance, and empowerment to those living with hemophilia, helping them to navigate their journey with greater confidence, mental fortitude, and emotional well-being.