Contents


Preface

Genomic variations are the basis for phenotypic variations of individual organisms of the same species. These phenotypic variations could be of clinical importance in humans and medically relevant organisms. Therefore detection of genomic variations, and interpretation of their phenotypic effects and pathogenic potentials, has

*Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations* is an up-to-date compilation of chapters on application of data analysis and mining

Chapter 1 discusses the application of non-decimated wavelet transform (NDWT) coupled with elastic net domains and Hurst exponent in identification of genetic diversity. Chapter 2 describes a comprehensive workflow for analysis of whole exome and whole genome sequencing data. It also presents the steps needed for variant discovery workflow with a particular focus on germline short variants and germline short insertion and deletion events. Additionally, this chapter outlines

Chapter 3 discusses local ancestry deconvolution and dating admixture events and the possible gaps in the knowledge that lead to the current challenges. Chapter 4 addresses the value of multiomics-based molecular patterns and the concept of pattern recognition and pattern biomarkers in cancer diagnosis and prognosis. It also explores the application of these concepts in personalized medicine. Chapter 5 addresses the genetic diversity of the hepatitis C virus and discusses its genotyping and concurrent variant profiling, as identification of resistance-associated variants of this virus determines the choice of anti-viral regimes in infected patients.

We would like to thank all the authors for their contributions and time in preparing this valuable collection. Also, we would like to extend our thanks to Mr. Luka Cvjetković for his great help during the editing of this book and to IntechOpen for

**Ali Samadikuchaksaraei, MD, PhD** 

Iran University of Medical Sciences,

Alberta Children's Research Institute (ACRI),

& Regenerative Medicine,

Tehran, Iran

Canada

**Morteza Seifi, PhD** 

Calgary, Alberta,

Departments of Medical Biotechnology and Tissue Engineering

become a growing field in both biomedical research and clinical medicine.

tools for identification of clinically important genomic variations.

methods for analysis of somatic and structural variations.

their commitment and support.
