Keywords:
Human genetics.
;
Electronic books.
Description / Table of Contents:
This book presents bioinformatics approaches for systems-level analysis of biological systems and prediction of causative multidimensional patterns of inheritance characteristic of multigene disorders.
Type of Medium:
Online Resource
Pages:
1 online resource (134 pages)
Edition:
1st ed.
ISBN:
9781461487784
Series Statement:
Advances in Experimental Medicine and Biology Series ; v.799
URL:
https://ebookcentral.proquest.com/lib/geomar/detail.action?docID=1592912
DDC:
616.0420285
Language:
English
Note:
Intro -- Preface -- Contents -- Contributors -- Chapter 1 Wellness and Health Omics Linked to the Environment: The WHOLE Approach to Personalized Medicine -- 1.1 Genomic Classifiers -- 1.2 Integrating Functional Genomic and Clinical Data to Capture Environmental Contributions -- 1.3 Presenting and Interpreting Genomic Risk for Wellness -- 1.4 Conclusion -- References -- Chapter 2 Characterizing Multi-omic Data in Systems Biology -- 2.1 Introduction -- 2.2 Sequencing Technologies -- 2.3 Sequencing Assays -- 2.4 Data Analysis -- 2.5 The Personalization and Publicizing of Genomes -- 2.6 Conclusions -- References -- Chapter 3 High-Throughput Translational Medicine: Challenges and Solutions -- 3.1 Introduction -- 3.2 Challenges -- 3.2.1 Challenges of High-Throughput Data Management -- 3.2.2 Challenges in Analysis of Large-Scale Multidimensional Data for the Extraction of Actionable Knowledge -- 3.3 Typical Steps of Translational Data Analysis -- 3.3.1 Data Movement and Storage -- 3.3.2 Automated Analytical Workflows -- 3.3.3 Annotation of Genetic Variants -- 3.3.3.1 Annotation of Genomic Features -- 3.3.3.2 Evolutionary Conservation -- 3.3.4 Enrichment Analysis -- 3.3.4.1 Meta-analysis Tools -- 3.3.5 Gene Prioritization and Network Reconstruction -- 3.4 End-to-End Solution for Translational Genomics -- 3.4.1 An Overview -- 3.4.2 Scalable Computational Infrastructure for High- Throughput Genomics -- 3.4.2.1 Scalability -- 3.4.2.2 Provenance and Reproducibility -- 3.4.2.3 Sharing and Collaboration -- 3.4.2.4 Economic Considerations -- 3.4.2.5 Platform-as-a-Service (PaaS) Model -- 3.4.3 The Discovery-Based Approach Using Lynx and VISTA Systems -- 3.4.3.1 Annotations by VISTA and RViewer -- 3.4.3.2 Annotations by Lynx -- 3.4.3.3 Gene Enrichment Analysis -- 3.4.4 Network-Based Gene Prioritization.
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3.4.4.1 Identification of Genetic Factors Contributing to the Pathogenesis of Spina Bifida Using the Described Analytical Pipeline -- 3.5 Future Directions -- 3.5.1 Contextual and Modular Organization of Biological Systems -- 3.5.2 Comparative Phenomics -- References -- Chapter 4 Computational Approaches for Human Disease Gene Prediction and Ranking -- 4.1 Introduction -- 4.2 Bioinformatic Tools for Gene Prioritization -- 4.2.1 Functional Annotation-Based Approaches -- 4.2.2 Network-Based Approaches -- 4.3 ToppGene Suite: A One-Stop Portal for Candidate Gene Prioritization Based on Functional Annotations and Protein Interactions Network -- 4.3.1 ToppGene: Functional Annotations-Based Candidate Gene Prioritization -- 4.3.2 ToppNet: Network Analysis-Based Candidate Gene Prioritization -- 4.3.3 ToppGeNet: Prioritization of Disease Gene Neighborhood in the Protein Interactome -- 4.4 Case Studies to Demonstrate the Utility of Computational Approaches for Human Disease Gene Prediction and Ranking -- 4.4.1 Case Study 1: Identifying and Ranking Novel Candidate Genes for Ten Human Diseases -- 4.4.2 Case Study 2: Exome Sequencing and Bioinformatics Applications to Identify Novel Rare Disease Causal Variants -- 4.5 Final Remarks -- References -- Chapter 5 A Personalized Treatment for Lung Cancer: Molecular Pathways, Targeted Therapies, and Genomic Characterization -- 5.1 Background -- 5.2 Treatment Considerations -- 5.3 Tumor Histology -- 5.4 Tumor Stage -- 5.5 Management of Stage I and II NSCLC -- 5.6 Management of Stage III NSCLC -- 5.7 Management of Stage IV NSCLC -- 5.8 Molecular Pathways in NSCLC -- 5.9 EGFR Pathway -- 5.10 EGFR-Directed Therapies -- 5.11 Biology of EGFR Mutations -- 5.12 Resistance to EGFR TKI -- 5.13 Overcoming Resistance to EGFR TKI -- 5.14 ALK-Driven NSCLC -- 5.15 ROS-1 -- 5.16 K-RAS-Driven NSCLC -- 5.17 RAS Biology.
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5.18 RAS Utility in Clinical Trials -- 5.19 MET as a Therapeutic Target in NSCLC -- 5.20 Molecular Biomarker Testing -- 5.21 Genomic Characterization of Lung Cancer -- 5.22 Future Directions -- 5.23 Conclusions -- References -- Index.
