Genetic Risk Score Based on Statistical Learning

Genetic Risk Score Based on Statistical Learning
Author: Florian Privé
Publisher:
Total Pages: 0
Release: 2019
Genre:
ISBN:

Genotyping is becoming cheaper, making genotype data available for millions of indi-viduals. Moreover, imputation enables to get genotype information at millions of locicapturing most of the genetic variation in the human genome. Given such large data andthe fact that many traits and diseases are heritable (e.g. 80% of the variation of heightin the population can be explained by genetics), it is envisioned that predictive modelsbased on genetic information will be part of a personalized medicine.In my thesis work, I focused on improving predictive ability of polygenic models.Because prediction modeling is part of a larger statistical analysis of datasets, I de-veloped tools to allow flexible exploratory analyses of large datasets, which consist intwo R/C++ packages described in the first part of my thesis. Then, I developed someefficient implementation of penalized regression to build polygenic models based onhundreds of thousands of genotyped individuals. Finally, I improved the “clumping andthresholding” method, which is the most widely used polygenic method and is based onsummary statistics that are widely available as compared to individual-level data.Overall, I applied many concepts of statistical learning to genetic data. I used ex-treme gradient boosting for imputing genotyped variants, feature engineering to cap-ture recessive and dominant effects in penalized regression, and parameter tuning andstacked regressions to improve polygenic prediction. Statistical learning is not widelyused in human genetics and my thesis is an attempt to change that.

Machine Learning and Systems Biology in Genomics and Health

Machine Learning and Systems Biology in Genomics and Health
Author: Shailza Singh
Publisher: Springer Nature
Total Pages: 239
Release: 2022-02-04
Genre: Science
ISBN: 9811659931

This book discusses the application of machine learning in genomics. Machine Learning offers ample opportunities for Big Data to be assimilated and comprehended effectively using different frameworks. Stratification, diagnosis, classification and survival predictions encompass the different health care regimes representing unique challenges for data pre-processing, model training, refinement of the systems with clinical implications. The book discusses different models for in-depth analysis of different conditions. Machine Learning techniques have revolutionized genomic analysis. Different chapters of the book describe the role of Artificial Intelligence in clinical and genomic diagnostics. It discusses how systems biology is exploited in identifying the genetic markers for drug discovery and disease identification. Myriad number of diseases whether be infectious, metabolic, cancer can be dealt in effectively which combines the different omics data for precision medicine. Major breakthroughs in the field would help reflect more new innovations which are at their pinnacle stage. This book is useful for researchers in the fields of genomics, genetics, computational biology and bioinformatics.

Statistical Genomics

Statistical Genomics
Author: Brooke Fridley
Publisher: Springer Nature
Total Pages: 377
Release: 2023-03-16
Genre: Science
ISBN: 1071629867

This volume provides a collection of protocols from researchers in the statistical genomics field. Chapters focus on integrating genomics with other “omics” data, such as transcriptomics, epigenomics, proteomics, metabolomics, and metagenomics. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Statistical Genomics hopes that by covering these diverse and timely topics researchers are provided insights into future directions and priorities of pan-omics and the precision medicine era.

Internet of Things. Advances in Information and Communication Technology

Internet of Things. Advances in Information and Communication Technology
Author: Deepak Puthal
Publisher: Springer Nature
Total Pages: 430
Release: 2023-10-25
Genre: Computers
ISBN: 3031458826

This book constitutes the refereed post-conference proceedings of the 6th IFIP International Cross-Domain Conference on Internet of Things, IFIPIoT 2023, held in Denton, TX, USA, in November 2023. The 36 full papers and 27 short papers presented were carefully reviewed and selected from 84 submissions. The papers offer insights into the latest innovations, challenges, and opportunities in IoT, covering a wide array of topics, including IoT architectures, security and privacy, data analytics, edge computing, and applications in various domains.

Innovations and Interdisciplinary Solutions for Underserved Areas

Innovations and Interdisciplinary Solutions for Underserved Areas
Author: Abdulhameed Danjuma Mambo
Publisher: Springer Nature
Total Pages: 314
Release: 2023-01-31
Genre: Computers
ISBN: 3031231163

This book constitutes the refereed post-conference proceedings of the 5th EAI International Conference on Innovations and Interdisciplinary Solutions for Underserved Areas, InterSol 2022, held in Nile University of Nigeria Abuja, Nigeria, in March 2022. The 26 papers presented were selected from 66 submissions and issue different problems in underserved and unserved areas. They face problems in almost all sectors such as energy, water, communication, climate change, food, education, transportation, social development, and economic growth.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker
Publisher: Academic Press
Total Pages: 880
Release: 2017-10-31
Genre: Science
ISBN: 0128041986

Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder