Open access peer-reviewed Edited Volume

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Edited by Ali Samadikuchaksaraei

Iran University of Medical Sciences


Morteza Seifi

University of Alberta

Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular patterns and pattern biomarkers in cancer diagnosis and prognosis, and genotyping and profiling resistance-associated variants of hepatitis C. If your research or clinical practice involves handling of genomic sequencing data, this book is for you.

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Bioinformatics Tools for Detection and Clinical Interpretation of Genomic VariationsEdited by Ali Samadikuchaksaraei

Published: September 4th 2019

DOI: 10.5772/intechopen.77443

ISBN: 978-1-78923-800-6

Print ISBN: 978-1-78923-799-3

eBook (PDF) ISBN: 978-1-83881-844-9

Copyright year: 2019

Books open for chapter submissions

5004 Total Chapter Downloads

8 Crossref Citations

6 Web of Science Citations

11 Dimensions Citations


Open access peer-reviewed

1. The Bioinformatics Tools for Discovery of Genetic Diversity by Means of Elastic Net and Hurst Exponent

By Leila Maria Ferreira, Thelma Sáfadi, Tesfahun Alemu Setotaw and Juliano Lino Ferreira


Open access peer-reviewed

2. Bioinformatics Workflows for Genomic Variant Discovery, Interpretation and Prioritization

By Osman Ugur Sezerman, Ege Ulgen, Nogayhan Seymen and Ilknur Melis Durasi


Open access peer-reviewed

3. Orienting Future Trends in Local Ancestry Deconvolution Models to Optimally Decipher Admixed Individual Genome Variations

By Gaston K. Mazandu, Ephifania Geza, Milaine Seuneu and Emile R. Chimusa


Open access peer-reviewed

4. Recognition of Multiomics-Based Molecule-Pattern Biomarker for Precise Prediction, Diagnosis, and Prognostic Assessment in Cancer

By Xanquan Zhan, Tian Zhou, Tingting Cheng and Miaolong Lu


Open access peer-reviewed

5. HCV Genotyping with Concurrent Profiling of Resistance-Associated Variants by NGS Analysis

By Kok-Siong Poon, Julian Wei-Tze Tang and Evelyn Siew- Chuan Koay


Edited Volume and chapters are indexed in

  • Worldcat
  • OpenAIRE
  • Google Scholar
  • AZ ebsco
  • Base
  • CNKI

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