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Next generation sequencing in genetic diagnostics

Table of Contents: “…Contents: Sanger sequencing -- Next generation sequencing (NGS) technologies -- Target enrichment -- Analysis of NGS data -- Neurogenetics -- Applications of NGS technology in genetics diagnostics (Dementia diagnostic panel, Parkinson's disease NGS diagnostic panel).…”
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Manufacturing viral gene therapy vectors general approaches and challenges /

Table of Contents: “…Contents: Manufacturing of Viral Gene Therapy Vectors -- Different types of vector production systems -- Concepts for the design of viral vector production cells -- Specific viral vector production systems for adenovirus, adeno-associated virus, gamma-retrovirus, and lentivirus -- Downstream processing -- Regulatory considerations.…”
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Drosophila genetics the first 25 years /

Table of Contents: “…Contents: Sex linked inheritance, linkage and linear chromosome maps -- Non-disjunction -- Genic balance theory of sex determination -- Chromosome aberrations -- Mutational studies of the gene -- X-ray induction of gene and chromosome mutations -- Cytological dissection of the X chromosome -- Mitotic cytology -- Polytene cytology.…”
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The genetics of pain

Table of Contents: “…Contents: Variability in pain sensitivity and analgesia -- Heritability of pain -- Genetic and environmental contributions to pain -- Pain genes -- Monogenic pain disorders -- Association studies -- Inbred mouse strains and strain differences -- Genetic correlations among pain phenotypes -- Quantitative trait loci (QTLs) -- Melanocortin-1 receptors and pain -- Formalin test QTLs -- Haplotype mapping -- Atp1b3 and formalin pain.…”
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Genetics of COPD

Table of Contents: “…Contents: COPD-important world-wide cause of morbidity and mortality -- Clear evidence of a genetic contribution to disease risk -- Genome wide association studies have identified genes predicting lung function -- Role of these genes in COPD pathophysiology.…”
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Genetics of epilepsy

Table of Contents: “…Contents: Epilepsy and genetics -- Significant contribution of genetics to many epilepsies -- Many types of variation, and methods to detect them -- Importance of correct interpretation -- Will likely revolutionise understanding.…”
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The genetics of glioblastoma

Table of Contents: “…Contents: Classifications of glioblastoma -- Isocitrate dehydrogenase 1 mutation as the fundamental mutation in malignant glioma -- The genetic mechanism of telomere maintenance in gliomas -- Molecular subclassifcation of gliomas.…”
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Genetic testing prediction vs. risk /

Table of Contents: “…Contents: Genetic principles -- "Traditional" Sanger sequencing and how it led to development of high throughput sequencing -- The principle underlying high throughput sequencing -- Some applications of high throughput sequencing including obesity -- The difference between risk vs. prediction in genetics.…”
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The genetics of stuttering

Table of Contents: “…Contents: The genetics of stuttering -- Genetics -- Neuroscience -- Speech and language pathology -- Twin and adoption studies -- Medical genetics -- Mice as a model for stuttering.…”
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Gene transfer and gene therapy

Table of Contents: “…Contents: Definition of gene therapy -- Requirements for successful gene therapy -- Vector systems with application for blood diseases -- Experience in clinical trials -- Insertional mutagenesis -- Prospects and new approaches.…”
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Genetic determinants of metabolism clinical applications in psychiatry /

Table of Contents: “…Contents: Factors that determine psychiatric importance of genetic variants -- Consequences which arise from genotyping -- Drugs are metabolized via the polymorphic cytochrome P450 enzyme CYP2D6 -- Differences in pharmacokinetic parameters for tricyclics, some SSRIs, other antidepressants, typical and some atypical antipsychotic drugs -- Effects on therapeutic efficacy and adverse events -- Indication for genotyping in psychotropic drug treatment -- Future research to close the gap between pharmacogenetic research and clinical practice.…”
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Genetics of chemosensory transduction taste and smell /

Subjects: “…Drosophila genetics. 113132…”
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Genetics of cardiovascular disease

Table of Contents: “…Contents: Conventional CVHD risk factors -- Multifactorial nature of CVD -- Gene-environment interaction and how to test for it -- Candidate gene approach to CVD genetics vs. genome-wide scans -- Examples of the candidate gene approach and gene-environment interaction, APOE and smoking interaction, LPL and smoking -- Mechanisms for these effects -- Novel genes identified by genome-wide scans for CHD and lipid traits.…”
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Legacy of Drosophila genetics female germline stem cells /

Subjects: “…Drosophila melanogaster genetics. 86478…”
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Genetics of animal health

Table of Contents: “…Contents: Importance of genetic of animal health -- Heritability -- Phenotype as a function of genetics & environment -- Genetic gain -- Health traits -- Viral diseases -- Udder traits: genetic variation across species -- Lameness (cattle & sheep) -- Bacterial diseases -- Fertility traits (dairy cows) -- Metabolic diseases -- Parasites -- Genetic trends -- Somatic cell score -- Mastitis and other diseases -- Genetic correlations between traits -- Increase accuracy of selection -- Predictor traits -- Indirect selection -- New technologies (genomics and others) -- Genome wide association studies and enabled selection.…”
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The genetics of frontotemporal dementia

Table of Contents: “…Contents: Overall characteristics of FTD -- Genes involved in frontotemporal dementia -- Pathology of frontotemporal dementia -- FTDP-17: 3R and 4R-tauopathies -- FTLD-TDP subtypes -- MAPT as the gene for FTD with tangles -- The microtubule associated protein tau -- Mutations affecting tau protein in FTD -- PGRN mutations as a cause for FTD -- A major locus for FTD and ALS on chromosome 9 -- Chromosome 3 dementia -- Making sense of these genes.…”
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Animal behavioral genetics

Table of Contents: “…Contents: Nature vs. nurture behaviors -- Epigenetics -- Innate vs. learned behaviors -- Emotional drivers in the brain -- The seek/fear switch -- Emotional traits have a heritable component -- New things are scary and attractive -- Different types of fear -- Measuring temperament in animals -- Animal welfare and genetics -- Biological systems overload -- An animal is like a country -- Future research -- Don't let bad become normal!.…”
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The genetic basis of dystonia

Table of Contents: “…Contents: Dystonia outline and historical summary -- Clinical characteristics, aetiology and classification of dystonia -- Different dystonia phenotypes their related genes and mutations -- Molecular pathogenesis and mechanisms in cellular processes and organelles -- Dystonia proteins in pre- and post-synaptic areas.…”
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Genetic epidemiology of obesity part 1 of 2 /

Table of Contents: “…Contents: Descriptive epidemiology -- Familial aggregation and risk -- Heritability studies -- Candidate gene approach -- Genome–wide linkage approach.…”
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Genetics of tumor metastasis part 1 of 2 /

Subjects: “…Breast Cancer Genetic aspects. 100461…”
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