Statistical Learning in Genetics

Statistical Learning in Genetics
Author: Daniel Sorensen
Publisher: Springer Nature
Total Pages: 696
Release: 2023-09-19
Genre: Mathematics
ISBN: 3031358511

This book provides an introduction to computer-based methods for the analysis of genomic data. Breakthroughs in molecular and computational biology have contributed to the emergence of vast data sets, where millions of genetic markers for each individual are coupled with medical records, generating an unparalleled resource for linking human genetic variation to human biology and disease. Similar developments have taken place in animal and plant breeding, where genetic marker information is combined with production traits. An important task for the statistical geneticist is to adapt, construct and implement models that can extract information from these large-scale data. An initial step is to understand the methodology that underlies the probability models and to learn the modern computer-intensive methods required for fitting these models. The objective of this book, suitable for readers who wish to develop analytic skills to perform genomic research, is to provide guidance to take this first step. This book is addressed to numerate biologists who typically lack the formal mathematical background of the professional statistician. For this reason, considerably more detail in explanations and derivations is offered. It is written in a concise style and examples are used profusely. A large proportion of the examples involve programming with the open-source package R. The R code needed to solve the exercises is provided. The MarkDown interface allows the students to implement the code on their own computer, contributing to a better understanding of the underlying theory. Part I presents methods of inference based on likelihood and Bayesian methods, including computational techniques for fitting likelihood and Bayesian models. Part II discusses prediction for continuous and binary data using both frequentist and Bayesian approaches. Some of the models used for prediction are also used for gene discovery. The challenge is to find promising genes without incurring a large proportion of false positive results. Therefore, Part II includes a detour on False Discovery Rate assuming frequentist and Bayesian perspectives. The last chapter of Part II provides an overview of a selected number of non-parametric methods. Part III consists of exercises and their solutions. Daniel Sorensen holds PhD and DSc degrees from the University of Edinburgh and is an elected Fellow of the American Statistical Association. He was professor of Statistical Genetics at Aarhus University where, at present, he is professor emeritus.

An Introduction to Statistical Genetic Data Analysis

An Introduction to Statistical Genetic Data Analysis
Author: Melinda C. Mills
Publisher: MIT Press
Total Pages: 433
Release: 2020-02-18
Genre: Science
ISBN: 0262538385

A comprehensive introduction to modern applied statistical genetic data analysis, accessible to those without a background in molecular biology or genetics. Human genetic research is now relevant beyond biology, epidemiology, and the medical sciences, with applications in such fields as psychology, psychiatry, statistics, demography, sociology, and economics. With advances in computing power, the availability of data, and new techniques, it is now possible to integrate large-scale molecular genetic information into research across a broad range of topics. This book offers the first comprehensive introduction to modern applied statistical genetic data analysis that covers theory, data preparation, and analysis of molecular genetic data, with hands-on computer exercises. It is accessible to students and researchers in any empirically oriented medical, biological, or social science discipline; a background in molecular biology or genetics is not required. The book first provides foundations for statistical genetic data analysis, including a survey of fundamental concepts, primers on statistics and human evolution, and an introduction to polygenic scores. It then covers the practicalities of working with genetic data, discussing such topics as analytical challenges and data management. Finally, the book presents applications and advanced topics, including polygenic score and gene-environment interaction applications, Mendelian Randomization and instrumental variables, and ethical issues. The software and data used in the book are freely available and can be found on the book's website.

Multivariate Statistical Machine Learning Methods for Genomic Prediction

Multivariate Statistical Machine Learning Methods for Genomic Prediction
Author: Osval Antonio Montesinos López
Publisher: Springer Nature
Total Pages: 707
Release: 2022-02-14
Genre: Technology & Engineering
ISBN: 3030890104

This book is open access under a CC BY 4.0 license This open access book brings together the latest genome base prediction models currently being used by statisticians, breeders and data scientists. It provides an accessible way to understand the theory behind each statistical learning tool, the required pre-processing, the basics of model building, how to train statistical learning methods, the basic R scripts needed to implement each statistical learning tool, and the output of each tool. To do so, for each tool the book provides background theory, some elements of the R statistical software for its implementation, the conceptual underpinnings, and at least two illustrative examples with data from real-world genomic selection experiments. Lastly, worked-out examples help readers check their own comprehension.The book will greatly appeal to readers in plant (and animal) breeding, geneticists and statisticians, as it provides in a very accessible way the necessary theory, the appropriate R code, and illustrative examples for a complete understanding of each statistical learning tool. In addition, it weighs the advantages and disadvantages of each tool.

Statistical Methods in Genetic Epidemiology

Statistical Methods in Genetic Epidemiology
Author: Duncan C. Thomas
Publisher: Oxford University Press
Total Pages: 458
Release: 2004-01-29
Genre: Medical
ISBN: 0199748055

This well-organized and clearly written text has a unique focus on methods of identifying the joint effects of genes and environment on disease patterns. It follows the natural sequence of research, taking readers through the study designs and statistical analysis techniques for determining whether a trait runs in families, testing hypotheses about whether a familial tendency is due to genetic or environmental factors or both, estimating the parameters of a genetic model, localizing and ultimately isolating the responsible genes, and finally characterizing their effects in the population. Examples from the literature on the genetic epidemiology of breast and colorectal cancer, among other diseases, illustrate this process. Although the book is oriented primarily towards graduate students in epidemiology, biostatistics and human genetics, it will also serve as a comprehensive reference work for researchers. Introductory chapters on molecular biology, Mendelian genetics, epidemiology, statistics, and population genetics will help make the book accessible to those coming from one of these fields without a background in the others. It strikes a good balance between epidemiologic study designs and statistical methods of data analysis.

Machine Learning in Genome-Wide Association Studies

Machine Learning in Genome-Wide Association Studies
Author: Ting Hu
Publisher: Frontiers Media SA
Total Pages: 74
Release: 2020-12-15
Genre: Science
ISBN: 2889662292

This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

The Fundamentals of Modern Statistical Genetics

The Fundamentals of Modern Statistical Genetics
Author: Nan M. Laird
Publisher: Springer Science & Business Media
Total Pages: 226
Release: 2010-12-13
Genre: Medical
ISBN: 1441973389

This book covers the statistical models and methods that are used to understand human genetics, following the historical and recent developments of human genetics. Starting with Mendel’s first experiments to genome-wide association studies, the book describes how genetic information can be incorporated into statistical models to discover disease genes. All commonly used approaches in statistical genetics (e.g. aggregation analysis, segregation, linkage analysis, etc), are used, but the focus of the book is modern approaches to association analysis. Numerous examples illustrate key points throughout the text, both of Mendelian and complex genetic disorders. The intended audience is statisticians, biostatisticians, epidemiologists and quantitatively- oriented geneticists and health scientists wanting to learn about statistical methods for genetic analysis, whether to better analyze genetic data, or to pursue research in methodology. A background in intermediate level statistical methods is required. The authors include few mathematical derivations, and the exercises provide problems for students with a broad range of skill levels. No background in genetics is assumed.

Statistical Genomics

Statistical Genomics
Author: Ben Hui Liu
Publisher: CRC Press
Total Pages: 642
Release: 2017-11-22
Genre: Mathematics
ISBN: 1351414534

Genomics, the mapping of the entire genetic complement of an organism, is the new frontier in biology. This handbook on the statistical issues of genomics covers current methods and the tried-and-true classical approaches.

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.

Gene Expression Data Analysis

Gene Expression Data Analysis
Author: Pankaj Barah
Publisher: CRC Press
Total Pages: 379
Release: 2021-11-21
Genre: Computers
ISBN: 1000425738

Development of high-throughput technologies in molecular biology during the last two decades has contributed to the production of tremendous amounts of data. Microarray and RNA sequencing are two such widely used high-throughput technologies for simultaneously monitoring the expression patterns of thousands of genes. Data produced from such experiments are voluminous (both in dimensionality and numbers of instances) and evolving in nature. Analysis of huge amounts of data toward the identification of interesting patterns that are relevant for a given biological question requires high-performance computational infrastructure as well as efficient machine learning algorithms. Cross-communication of ideas between biologists and computer scientists remains a big challenge. Gene Expression Data Analysis: A Statistical and Machine Learning Perspective has been written with a multidisciplinary audience in mind. The book discusses gene expression data analysis from molecular biology, machine learning, and statistical perspectives. Readers will be able to acquire both theoretical and practical knowledge of methods for identifying novel patterns of high biological significance. To measure the effectiveness of such algorithms, we discuss statistical and biological performance metrics that can be used in real life or in a simulated environment. This book discusses a large number of benchmark algorithms, tools, systems, and repositories that are commonly used in analyzing gene expression data and validating results. This book will benefit students, researchers, and practitioners in biology, medicine, and computer science by enabling them to acquire in-depth knowledge in statistical and machine-learning-based methods for analyzing gene expression data. Key Features: An introduction to the Central Dogma of molecular biology and information flow in biological systems A systematic overview of the methods for generating gene expression data Background knowledge on statistical modeling and machine learning techniques Detailed methodology of analyzing gene expression data with an example case study Clustering methods for finding co-expression patterns from microarray, bulkRNA, and scRNA data A large number of practical tools, systems, and repositories that are useful for computational biologists to create, analyze, and validate biologically relevant gene expression patterns Suitable for multidisciplinary researchers and practitioners in computer science and biological sciences

Computational Genomics with R

Computational Genomics with R
Author: Altuna Akalin
Publisher: CRC Press
Total Pages: 462
Release: 2020-12-16
Genre: Mathematics
ISBN: 1498781861

Computational Genomics with R provides a starting point for beginners in genomic data analysis and also guides more advanced practitioners to sophisticated data analysis techniques in genomics. The book covers topics from R programming, to machine learning and statistics, to the latest genomic data analysis techniques. The text provides accessible information and explanations, always with the genomics context in the background. This also contains practical and well-documented examples in R so readers can analyze their data by simply reusing the code presented. As the field of computational genomics is interdisciplinary, it requires different starting points for people with different backgrounds. For example, a biologist might skip sections on basic genome biology and start with R programming, whereas a computer scientist might want to start with genome biology. After reading: You will have the basics of R and be able to dive right into specialized uses of R for computational genomics such as using Bioconductor packages. You will be familiar with statistics, supervised and unsupervised learning techniques that are important in data modeling, and exploratory analysis of high-dimensional data. You will understand genomic intervals and operations on them that are used for tasks such as aligned read counting and genomic feature annotation. You will know the basics of processing and quality checking high-throughput sequencing data. You will be able to do sequence analysis, such as calculating GC content for parts of a genome or finding transcription factor binding sites. You will know about visualization techniques used in genomics, such as heatmaps, meta-gene plots, and genomic track visualization. You will be familiar with analysis of different high-throughput sequencing data sets, such as RNA-seq, ChIP-seq, and BS-seq. You will know basic techniques for integrating and interpreting multi-omics datasets. Altuna Akalin is a group leader and head of the Bioinformatics and Omics Data Science Platform at the Berlin Institute of Medical Systems Biology, Max Delbrück Center, Berlin. He has been developing computational methods for analyzing and integrating large-scale genomics data sets since 2002. He has published an extensive body of work in this area. The framework for this book grew out of the yearly computational genomics courses he has been organizing and teaching since 2015.