Next Generation Sequencing in der diagnostischen Praxis Von der Variante zum Befund
作者： Isar Medizin Zentrum , Christian-Albrechts-Universität Kiel
DOI:
关键词: Mutation (genetic algorithm) 、 Whole genome sequencing 、 Patient care 、 Genetics 、 DNA sequencing 、 Computational biology 、 Context (language use) 、 Health care 、 Exome 、 Medicine 、 Sequencing data
摘要: Abstract Next generation sequencing (NGS) allows whole exome or genome for a given patient to be performed timely and at reasonable cost. This diagnostic quan-tum leap not only has various legal, ethical andeconomicalaspects butwillnaturallyal-so impact upon care. Currently, how-ever, the wide-spread introduction of NGS in-to routine diagnostics is facing many obsta-cles. In particular, it expected that will identify large number rare vari-antsinagivenpatientthatareof(yet)un-known clinical significance. As first step to-wards solving this problem, we introduce concept database systematical-ly integrate genotypic phenotypic infor-mation from German health care context. Not resource great scien-tificvalue, thedatabaseshallalsoprovidehuman geneticists with evidence base necessary reliable evaluation their patient-related data. Keywords Database ·Diagnosis ·DNA ·Mutation ·Polymorphism, genetic
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