Scripps Translational Science Institute

The papers below provide a great introduction to Genomic Diagnostics, Progress in Sequencing, and Cancer, as well as other relevant topics.

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Genomic Diagnostics

• The next phase in human genetics (Bansal V et al., 2011)
• White Paper: Applying Genomics to Clinical Problems-Diagnostics, Preventive Medicine, Pharmacogenomics (Valle et al., 2011)
• A policy approach to the development of molecular diagnostic tests (Schulman et al., 2010)
• Evaluating the value of genomic diagnostics: implications for clinical practice and public policy (Issa AM, 2008)

Progress in Sequencing

• The Diploid Genome Sequence of an Individual Human (Levy et al., 2007)
• The Complete Genome of an Individual by Massively Parallel DNA Sequencing (Wheeler et al., 2008)
• Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine (Tucker et al., 2009)
• White Paper: The Future of Genome Sequencing (Guyer et al., 2011)
• Accurate detection and genotyping of SNPs utilizing population sequencing data (Bansal et al., 2010)

Cancer

• Understanding Cancer Genomics by the National Cancer Institute (Accessed 2011)
• The Genomic Landscapes of Human Breast and Colorectal Cancers (Wood et al., 2007)
• An Integrated Genomic Analysis of Human Glioblastoma Multiforme (Williams Parsons et al., 2008)
• Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses (Jones et al., 2008)
• Deciphering the Genetic Landscape of Cancer—From Genes to Pathway (Copeland & Jenkins, 2009)

Diabetes, Obesity and Metabolic Disorders

• NIDDK Information on Genetics & Genomics of Obesity (Accessed, 2011)
• NIDDK Information on Diabetes and Genomics Research (Accessed, 2011)
• Genomics, Type 2 Diabetes and Obesity (McCarthy, 2010)
• Obesity genes: so close and yet so far… (Pomp and Mohlke, 2008)

Additional Reading

• Waiting for the Revolution (Marshall, 2011)
• Genetic Mapping in Human Disease (Altshuler et al., 2008)
• How to Interpret a Genome-wide Association Study (Pearson & Manolio, 2008)
• Finding the Missing Heritability of Complex Diseases (Manolio et al., 2009)
• Complete Genome Sequence of USA300, an Epidemic Clone of Community-acquired Meticilling-resistant Staphylococcus aureus (Diep et al., 2006)
• Antigenic and Genetic Characteristics of Swine-Origin 2009 A (H1N1) Influenza Viruses Circulating in Humans (Garten et al., 2009)
• Aspects of Genetic Susceptibility to Human Infectious Diseases (Hill, 2006)
• Genetics of Infectious Diseases (Frodsham & Hill, 2004)
• Genetic Polymorphisms of Infectious Disease (Pacheco & Moraes, 2009)
• Genomics, systems biology and drug development for infectious disease (Sakata & Winzeler, 2007)
• Human genetics of infectious diseases: between proof of principle and paradigm (Alcaïs et al., 2009)
• Signaling Mechanisms Involved in the Response to Genotoxic Stress and Regulating Lifespan (Niedernhofer & Robbins, 2009)
• DNA Damage, Aging, and Cancer (Hoeijmakers, 2009)
• Genetic Determinants of Human Health Span and Life Span: Progress and New Opportunities (Martin et al., 2007)
• Genetic and Epigenetic Regulation of Aging (Fraga, 2009)
• The Pathophysiology of Mitochondrial Disease as Modeled in the Mouse (Wallace & Fan, 2009)
• Genetic Variation of Healthy Oldest-Old (Halaschek-Wiener et al., 2009)
• Genetic Determinants of Response to Warfarin During Initial Anticoagulation (Schwarz et al., 2008)
• Cytochrome P-450 Polymorphisms and Response to Clopidogrel (Mega et al., 2009)
• Pharmacogenetics of Drug Dependence: Role of Gene Variations In Susceptibility and Treatment (Khokhar et al., 2010)
• A Piece in the Puzzle of Personalized Medicine (Kroemer et al., 2010)
• Genotypic Approaches to Therapy in Children: A National Active Surveillance Network (GATC) to Study the Pharmacogenomics of Severe Adverse Drug Reactions in Chilren (Ross et al., 2007)
• US pharmacies broaden access to pharmacogenetic tests (Malorye Allison, 2010)
• An Agenda for Personalized Medicine (Ng et al., 2009)
• Catapulting clopidogrel pharmacogenomics forward (Topol EJ and Schork NJ, 2011)

 

• Genetic and Genomic Competencies for RNs - Document Attached