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This book explores the importance of Single Nucleotide Polymorphisms (SNPs) in biomedical research. As SNP technologies have evolved from labor intensive, expensive, time-consuming processes to relatively inexpensive methods, SNP discovery has exploded. In terms of human biology, this research, particularly since the completion of the Human Genome Project, has provided a detailed understanding of evolutionary forces that have generated SNPs. It also has shown how SNPs shape human variation. The ability to inexpensively generate and analyze vast amounts of genetic data is poised to transform our understanding of human evolution and biology. “Single Nucleotide Polymorphisms” covers a broad survey of SNPs and their classification into synonymous and non-synonymous the role of SNPs in human disease case studies providing specific examples of synonymous and non-synonymous SNPs associated with human diseases or affecting therapeutic interventions mechanisms by which synonymous mutations affect protein levels or protein folding which affect human physiology and response to therapy and the role of SNPs in personalized medicine. Understanding what SNPs are, how they have been shaped is necessary for an increasingly expanding audience. This research will revolutionize the future of medicine. Chapter 4 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
An Overview of Human Genome Sequencing and How to Access Information About SNVs
SNPs Classification and Terminology: dbSNP Reference SNP (rs) Gene and Consequence Annotation
A Broad Survey of SNPs, Their Classification into Synonymous and Non-synonymous and the Undesirable Consequences of Using the Term “Silent” for Synonymous Changes
Evolutionary Forces That Generate SNPs: The Evolutionary Impacts of Synonymous Mutations
Recording Silence – Accurate Annotation of the Genetic Sequence Is Required to Better Understand How Synonymous Coding Affects Protein Structure and Disease
The Role of SNPs in Human Disease
GWAS to Identify SNPs Associated with Common Diseases and Individual Risk: Genome Wide Association Studies (GWAS) to Identify SNPs Associated with Common Diseases and Individual Risk
SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer
An Examination of the Mechanisms by Which Synonymous Mutations Affect Protein Levels or Protein Folding Which Affect Human Physiology and Response to Therapy
An Examination of Mechanisms by which Synonymous Mutations may Alter Protein Levels, Structure and Functions
Methods to Evaluate the Effects of Synonymous Variants
The Role of SNPs in Personalized Medicine and the Platform Technology of Codon Optimization
Using Genome Wide Studies to Generate and Test Hypotheses that Provide Mechanistic Details of How Synonymous Codons Affect Protein Structure and Function: Functional SNPs in the Age of Precision Medicine
SNPs and Personalized Medicine: Scrutinizing Pathogenic Synonymous Mutations for Precision Oncology
Condon Optimization: Codon Optimization of Therapeutic Proteins: Suggested Criteria for Increased Efficacy and Safety