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001448701 019__ $$a1340956297
001448701 020__ $$a9783031056161$$q(electronic bk.)
001448701 020__ $$a3031056167$$q(electronic bk.)
001448701 020__ $$z9783031056147
001448701 020__ $$z3031056140
001448701 0247_ $$a10.1007/978-3-031-05616-1$$2doi
001448701 035__ $$aSP(OCoLC)1340946730
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001448701 050_4 $$aQH447.63.S56
001448701 08204 $$a611/.01816$$223/eng/20220822
001448701 24500 $$aSingle nucleotide polymorphisms :$$bhuman variation and a coming revolution in biology and medicine /$$cZuben E. Sauna, Chava Kimchi-Sarfaty, editors.
001448701 264_1 $$aCham :$$bSpringer,$$c[2022]
001448701 264_4 $$c©2022
001448701 300__ $$a1 online resource (xviii, 234 pages) :$$billustrations (chiefly color)
001448701 336__ $$atext$$btxt$$2rdacontent
001448701 337__ $$acomputer$$bc$$2rdamedia
001448701 338__ $$aonline resource$$bcr$$2rdacarrier
001448701 504__ $$aIncludes bibliographical references and index.
001448701 5050_ $$aIntro -- Introduction and Overview: Single Nucleotide Polymorphisms, Human Variation, and a Coming Revolution in Biology and Medicine -- Introduction -- Overview of the Book -- Part I: An Overview of Human Genome Sequencing and How to Access Information About SNVs -- Part II: A Broad Survey of SNPs, Their Classification into Synonymous and Non-synonymous, and the Undesirable Consequences of Using the Term "Silent" for Synonymous Changes -- Part III: The Role of SNPs in Human Diseases
001448701 5058_ $$aPart IV: An Examination of the Mechanisms by Which Synonymous Mutations Affect Protein Levels or Protein Folding, Which Affect Human Physiology and Response to Therapy -- Part V: The Role of SNPs in Personalized Medicine and the Platform Technology of Codon Optimization -- Summary -- References -- Contents -- Part I: An Overview of Human Genome Sequencing and How to Access Information About SNVs -- Chapter 1: SNPs Classification and Terminology: dbSNP Reference SNP (rs) Gene and Consequence Annotation -- 1.1 Introduction -- 1.2 What Is dbSNP Used for?
001448701 5058_ $$a1.3 dbSNP Molecular Consequences (AKA Function Class) -- 1.4 Computed Molecular vs. Observed Functional Consequences -- 1.5 Computing Molecular Consequences in dbSNP -- 1.6 Splicing Variants -- 1.7 Other Non-CDS Variants -- 1.8 Searching dbSNP by Variant Consequences -- References -- Part II: A Broad Survey of SNPs, Their Classification into Synonymous and Non-synonymous and the Undesirable Consequences of Using the Term "Silent" for Synonymous Changes -- Chapter 2: Evolutionary Forces That Generate SNPs: The Evolutionary Impacts of Synonymous Mutations -- 2.1 Introduction
001448701 5058_ $$a2.2 Evidence for the Evolutionary Impacts of Synonymous Mutations -- 2.2.1 Indirect Evidence -- 2.2.2 Direct Evidence -- 2.3 Changing Evolutionary Perspectives on Synonymous Mutations -- 2.3.1 Phase I: Mostly Neutral -- 2.3.2 Phase II: Weak Translational Selection -- 2.3.3 Phase III: Pervasive (Sometimes Strong) Selection, Diverse Mechanisms -- 2.4 Summary and Future Directions -- 2.4.1 Building a Cohesive Evolutionary Framework -- 2.4.2 Predicting the Evolutionary Fate of Synonymous Mutations -- 2.4.3 Developing New Methods to Identify Signatures of Selection
001448701 5058_ $$a2.4.4 Determining the Evolutionary History of Mechanisms Driving Selection at Synonymous Sites -- References -- Chapter 3: Recording Silence - Accurate Annotation of the Genetic Sequence Is Required to Better Understand How Synonymous Coding Affects Protein Structure and Disease -- 3.1 Synonymous But Not Silent -- 3.2 An Ironic Oversight in Structural Biology -- 3.3 Lost Opportunities in the Machine Learning Revolution -- 3.4 Silently Shaping the Edifice of Life -- References -- Part III: The Role of SNPs in Human Disease
001448701 506__ $$aAccess limited to authorized users.
001448701 520__ $$aThis book explores the importance of Single Nucleotide Polymorphisms (SNPs) in biomedical research. As SNP technologies have evolved from labor intensive, expensive, time-consuming processes to relatively inexpensive methods, SNP discovery has exploded. In terms of human biology, this research, particularly since the completion of the Human Genome Project, has provided a detailed understanding of evolutionary forces that have generated SNPs. It also has shown how SNPs shape human variation. The ability to inexpensively generate and analyze vast amounts of genetic data is poised to transform our understanding of human evolution and biology. Single Nucleotide Polymorphisms covers a broad survey of SNPs and their classification into synonymous and non-synonymous; the role of SNPs in human disease; case studies providing specific examples of synonymous and non-synonymous SNPs associated with human diseases or affecting therapeutic interventions; mechanisms by which synonymous mutations affect protein levels or protein folding which affect human physiology and response to therapy; and the role of SNPs in personalized medicine. Understanding what SNPs are, how they have been shaped is necessary for an increasingly expanding audience. This research will revolutionize the future of medicine. Chapter 4 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
001448701 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed August 22, 2022).
001448701 650_0 $$aSingle nucleotide polymorphisms.
001448701 655_0 $$aElectronic books.
001448701 7001_ $$aSauna, Zuben E.,$$eeditor.
001448701 7001_ $$aKimchi-Sarfaty, Chava,$$eeditor.
001448701 77608 $$iPrint version: $$z3031056140$$z9783031056147$$w(OCoLC)1310617983
001448701 852__ $$bebk
001448701 85640 $$3Springer Nature$$uhttps://univsouthin.idm.oclc.org/login?url=https://link.springer.com/10.1007/978-3-031-05616-1$$zOnline Access$$91397441.1
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001448701 980__ $$aBIB
001448701 980__ $$aEBOOK
001448701 982__ $$aEbook
001448701 983__ $$aOnline
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