Primer To Analysis Of Genomic Data Using R

Through this book, researchers and students will learn to use R for analysis of large-scale genomic data and how to create routines to automate analytical steps. The philosophy behind the book is to start with real world raw datasets and perform all the analytical steps needed to reach final results. Though theory plays an important role, this is a practical book for graduate and undergraduate courses in bioinformatics and genomic analysis or for use in lab sessions. How to handle and manage high-throughput genomic data, create automated workflows and speed up analyses in R is also taught. A wide range of R packages useful for working with genomic data are illustrated with practical examples. The key topics covered are association studies, genomic prediction, estimation of population genetic parameters and diversity, gene expression analysis, functional annotation of results using publically available databases and how to work efficiently in R with large genomic datasets. Important principles are demonstrated and illustrated through engaging examples which invite the reader to work with the provided datasets. Some methods that are discussed in this volume include: signatures of selection, population parameters (LD, FST, FIS, etc); use of a genomic relationship matrix for population diversity studies; use of SNP data for parentage testing; snpBLUP and gBLUP for genomic prediction. Step-by-step, all the R code required for a genome-wide association study is shown: starting from raw SNP data, how to build databases to handle and manage the data, quality control and filtering measures, association testing and evaluation of results, through to identification and functional annotation of candidate genes. Similarly, gene expression analyses are shown using microarray and RNAseq data. At a time when genomic data is decidedly big, the skills from this book are critical. In recent years R has become the de facto tool for analysis of gene expression data, in addition to its prominent role in analysis of genomic data. Benefits to using R include the integrated development environment for analysis, flexibility and control of the analytic workflow. Included topics are core components of advanced undergraduate and graduate classes in bioinformatics, genomics and statistical genetics. This book is also designed to be used by students in computer science and statistics who want to learn the practical aspects of genomic analysis without delving into algorithmic details. The datasets used throughout the book may be downloaded from the publisher’s website.

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.

Praise from the reviews: "Without reservation, I endorse this text as the best resource I've encountered that neatly introduces and summarizes many points I've learned through years of experience. The gems of truth found in this book will serve well those who wish to apply bioinformatics in their daily work, as well as help them advise others in this capacity." CIRCGENETICS "This book may really help to get geneticists and bioinformaticians on 'speaking-terms'... contains some essential reading for almost any person working in the field of molecular genetics." EUROPEAN JOURNAL OF HUMAN GENETICS "... an excellent resource... this book should ensure that any researcher's skill base is maintained." GENETICAL RESEARCH “... one of the best available and most accessible texts on bioinformatics and genetics in the postgenome age... The writing is clear, with succinct subsections within each chapter....Without reservation, I endorse this text as the best resource I’ve encountered that neatly introduces and summarizes many points I’ve learned through years of experience. The gems of truth found in this book will serve well those who wish to apply bioinformatics in their daily work, as well as help them advise others in this capacity.” CIRCULATION: CARDIOVASCULAR GENETICS A fully revised version of the successful First Edition, this one-stop reference book enables all geneticists to improve the efficiency of their research. The study of human genetics is moving into a challenging new era. New technologies and data resources such as the HapMap are enabling genome-wide studies, which could potentially identify most common genetic determinants of human health, disease and drug response. With these tremendous new data resources at hand, more than ever care is required in their use. Faced with the sheer volume of genetics and genomic data, bioinformatics is essential to avoid drowning true signal in noise. Considering these challenges, Bioinformatics for Geneticists, Second Edition works at multiple levels: firstly, for the occasional user who simply wants to extract or analyse specific data; secondly, at the level of the advanced user providing explanations of how and why a tool works and how it can be used to greatest effect. Finally experts from fields allied to genetics give insight into the best genomics tools and data to enhance a genetic experiment. Hallmark Features of the Second Edition: Illustrates the value of bioinformatics as a constantly evolving avenue into novel approaches to study genetics The only book specifically addressing the bioinformatics needs of geneticists More than 50% of chapters are completely new contributions Dramatically revised content in core areas of gene and genomic characterisation, pathway analysis, SNP functional analysis and statistical genetics Focused on freely available tools and web-based approaches to bioinformatics analysis, suitable for novices and experienced researchers alike Bioinformatics for Geneticists, Second Edition describes the key bioinformatics and genetic analysis processes that are needed to identify human genetic determinants. The book is based upon the combined practical experience of domain experts from academic and industrial research environments and is of interest to a broad audience, including students, researchers and clinicians working in the human genetics domain.

Applied Survival Analysis Using R covers the main principles of survival analysis, gives examples of how it is applied, and teaches how to put those principles to use to analyze data using R as a vehicle. Survival data, where the primary outcome is time to a specific event, arise in many areas of biomedical research, including clinical trials, epidemiological studies, and studies of animals. Many survival methods are extensions of techniques used in linear regression and categorical data, while other aspects of this field are unique to survival data. This text employs numerous actual examples to illustrate survival curve estimation, comparison of survivals of different groups, proper accounting for censoring and truncation, model variable selection, and residual analysis. Because explaining survival analysis requires more advanced mathematics than many other statistical topics, this book is organized with basic concepts and most frequently used procedures covered in earlier chapters, with more advanced topics near the end and in the appendices. A background in basic linear regression and categorical data analysis, as well as a basic knowledge of calculus and the R system, will help the reader to fully appreciate the information presented. Examples are simple and straightforward while still illustrating key points, shedding light on the application of survival analysis in a way that is useful for graduate students, researchers, and practitioners in biostatistics.

The book provides a description of the process of health economic evaluation and modelling for cost-effectiveness analysis, particularly from the perspective of a Bayesian statistical approach. Some relevant theory and introductory concepts are presented using practical examples and two running case studies. The book also describes in detail how to perform health economic evaluations using the R package BCEA (Bayesian Cost-Effectiveness Analysis). BCEA can be used to post-process the results of a Bayesian cost-effectiveness model and perform advanced analyses producing standardised and highly customisable outputs. It presents all the features of the package, including its many functions and their practical application, as well as its user-friendly web interface. The book is a valuable resource for statisticians and practitioners working in the field of health economics wanting to simplify and standardise their workflow, for example in the preparation of dossiers in support of marketing authorisation, or academic and scientific publications.

This book introduces readers to the basic concepts of Heart Rate Variability (HRV) and its most important analysis algorithms using a hands-on approach based on the open-source RHRV software. HRV refers to the variation over time of the intervals between consecutive heartbeats. Despite its apparent simplicity, HRV is one of the most important markers of the autonomic nervous system activity and it has been recognized as a useful predictor of several pathologies. The book discusses all the basic HRV topics, including the physiological contributions to HRV, clinical applications, HRV data acquisition, HRV data manipulation and HRV analysis using time-domain, frequency-domain, time-frequency, nonlinear and fractal techniques. Detailed examples based on real data sets are provided throughout the book to illustrate the algorithms and discuss the physiological implications of the results. Offering a comprehensive guide to analyzing beat information with RHRV, the book is intended for masters and Ph.D. students in various disciplines such as biomedical engineering, human and veterinary medicine, biology, and pharmacy, as well as researchers conducting heart rate variability analyses on both human and animal data.

This guide for practicing statisticians, data scientists, and R users and programmers will teach the essentials of preprocessing: data leveraging the R programming language to easily and quickly turn noisy data into usable pieces of information. Data wrangling, which is also commonly referred to as data munging, transformation, manipulation, janitor work, etc., can be a painstakingly laborious process. Roughly 80% of data analysis is spent on cleaning and preparing data; however, being a prerequisite to the rest of the data analysis workflow (visualization, analysis, reporting), it is essential that one become fluent and efficient in data wrangling techniques. This book will guide the user through the data wrangling process via a step-by-step tutorial approach and provide a solid foundation for working with data in R. The author's goal is to teach the user how to easily wrangle data in order to spend more time on understanding the content of the data. By the end of the book, the user will have learned: How to work with different types of data such as numerics, characters, regular expressions, factors, and dates The difference between different data structures and how to create, add additional components to, and subset each data structure How to acquire and parse data from locations previously inaccessible How to develop functions and use loop control structures to reduce code redundancy How to use pipe operators to simplify code and make it more readable How to reshape the layout of data and manipulate, summarize, and join data sets

This new edition to the classic book by ggplot2 creator Hadley Wickham highlights compatibility with knitr and RStudio. ggplot2 is a data visualization package for R that helps users create data graphics, including those that are multi-layered, with ease. With ggplot2, it's easy to: produce handsome, publication-quality plots with automatic legends created from the plot specification superimpose multiple layers (points, lines, maps, tiles, box plots) from different data sources with automatically adjusted common scales add customizable smoothers that use powerful modeling capabilities of R, such as loess, linear models, generalized additive models, and robust regression save any ggplot2 plot (or part thereof) for later modification or reuse create custom themes that capture in-house or journal style requirements and that can easily be applied to multiple plots approach a graph from a visual perspective, thinking about how each component of the data is represented on the final plot This book will be useful to everyone who has struggled with displaying data in an informative and attractive way. Some basic knowledge of R is necessary (e.g., importing data into R). ggplot2 is a mini-language specifically tailored for producing graphics, and you'll learn everything you need in the book. After reading this book you'll be able to produce graphics customized precisely for your problems, and you'll find it easy to get graphics out of your head and on to the screen or page.