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