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Introduction: Setting the Scene, Morphology to Molecular; Contents; Molecular Diagnostics: Translation fromßDiscovery toßClinical Practice; New Technologies andßTheir Promise; Currently Approved Molecular Diagnostics inßPathology; Translation ofß'Omics toßMolecular Diagnostics; Future Outlook; References; Biobanking inßCancer Research; Introduction; Ethical Considerations; Consent; Sustainability; Best Practice andßAccess Protocols; Quality Assurance andßQuality Control; Facility Infrastructure; Biospecimen Control andßDocumentation; System Security; Clinical Data Records.
Supply Records Databases; Equipment andßGeneral Requirements; Conclusion; References; Cytogenetics: Methodologies; Introduction; Classical Cytogenetics/Karyotyping; Molecular Cytogenetics; Fluorescence InßSitu Hybridisation; Microarrays; Array Comparative Genomic Hybridisation; Single Nucleotide Polymorphism Arrays; Limitations ofßMicroarrays; Molecular Genetics; Polymerase Chain Reaction + Direct DNA Sequencing (Sanger Sequencing); Multiplex Ligation-Dependent Probe Amplification; Southern Blot; PCR + Fluorescent Fragment Sizing; Real-Time PCR (Quantitative PCR).
Emerging/Translational Techniques Massively Parallel Sequencing; References; Cytogenetics: Applications; Introduction; Cancer Cytogenetics; Diagnosis andßMonitoring; Chronic Myelogenous Leukaemia; Prognosis andßManagement; Multiple Myeloma; Chronic Lymphocytic Leukaemia; Acute Leukaemias; Non Small Cell Lung Cancer; Breast Cancer; Germline Disorders; Postnatal Testing; Intellectual Disability/Developmental Delay; Syndromic Presentations; Single Gene Disorders; Infertility/Recurrent Pregnancy Loss; Prenatal Testing; References; Genomic Analysis; Introduction.
Classes ofßGenetic Events in Cancer Somatic Mutation; Copy Number; Loss ofßHeterozygosity; Structural Chromosome Changes; Germline Variation; Methods ofßGenomic Analysis; Karyotyping; Array-Based; Sequencing-Based; Sanger Sequencing; Massively Parallel Sequencing; Limitations ofßGenomic Analyses; Applications ofßGenomic Analysis inßCancer; Genome-Wide Association Studies; Mapping ofßOncogenes andßTumor Suppressor Genes; Association ofßGenetic Events withßClinical Features; Germline Predisposition toßCancer; Molecular Subtyping andßDiagnostics; Prognostic Markers.
Pharmacogenomics Response toßConventional Therapies; Targeted Molecular Therapeutics; Future andßNear-Term Clinical Applications; References; Gene Expression Analysis: Current Methods; Introduction; DNA Microarray; DNA Microarray Technology; Experimental Design; Experimental Objectives; Replication; One- or Two-Colour Systems; Designs; DNA Microarray: Data Pre-processing; Background Correction; Normalisation; Probes Summarisation; DNA Microarray: Quality Control; DNA Microarray: Statistical Analysis; Class Comparison; Class Discovery; Class Prediction; Pathway Analysis.
Supply Records Databases; Equipment andßGeneral Requirements; Conclusion; References; Cytogenetics: Methodologies; Introduction; Classical Cytogenetics/Karyotyping; Molecular Cytogenetics; Fluorescence InßSitu Hybridisation; Microarrays; Array Comparative Genomic Hybridisation; Single Nucleotide Polymorphism Arrays; Limitations ofßMicroarrays; Molecular Genetics; Polymerase Chain Reaction + Direct DNA Sequencing (Sanger Sequencing); Multiplex Ligation-Dependent Probe Amplification; Southern Blot; PCR + Fluorescent Fragment Sizing; Real-Time PCR (Quantitative PCR).
Emerging/Translational Techniques Massively Parallel Sequencing; References; Cytogenetics: Applications; Introduction; Cancer Cytogenetics; Diagnosis andßMonitoring; Chronic Myelogenous Leukaemia; Prognosis andßManagement; Multiple Myeloma; Chronic Lymphocytic Leukaemia; Acute Leukaemias; Non Small Cell Lung Cancer; Breast Cancer; Germline Disorders; Postnatal Testing; Intellectual Disability/Developmental Delay; Syndromic Presentations; Single Gene Disorders; Infertility/Recurrent Pregnancy Loss; Prenatal Testing; References; Genomic Analysis; Introduction.
Classes ofßGenetic Events in Cancer Somatic Mutation; Copy Number; Loss ofßHeterozygosity; Structural Chromosome Changes; Germline Variation; Methods ofßGenomic Analysis; Karyotyping; Array-Based; Sequencing-Based; Sanger Sequencing; Massively Parallel Sequencing; Limitations ofßGenomic Analyses; Applications ofßGenomic Analysis inßCancer; Genome-Wide Association Studies; Mapping ofßOncogenes andßTumor Suppressor Genes; Association ofßGenetic Events withßClinical Features; Germline Predisposition toßCancer; Molecular Subtyping andßDiagnostics; Prognostic Markers.
Pharmacogenomics Response toßConventional Therapies; Targeted Molecular Therapeutics; Future andßNear-Term Clinical Applications; References; Gene Expression Analysis: Current Methods; Introduction; DNA Microarray; DNA Microarray Technology; Experimental Design; Experimental Objectives; Replication; One- or Two-Colour Systems; Designs; DNA Microarray: Data Pre-processing; Background Correction; Normalisation; Probes Summarisation; DNA Microarray: Quality Control; DNA Microarray: Statistical Analysis; Class Comparison; Class Discovery; Class Prediction; Pathway Analysis.