Human genetics is both a fundamental and an applied science. As a fundamental science, it is part of genetics – the branch of science that examines the laws of storage, transmission, and realization of information for development and function of living organisms. Within this framework, human genetics concerns itself with the most interesting organism – the human being. This concern with our own species makes us scrutinize scientific results in human genetics not only for their theoretical significance but also for their practical value for human welfare. Thus, human genetics is also an applied science. Its value for human welfare is bound to have repercussions for theoretical research as well, since it influences the selection of problems by human geneticists, their training, and the financing of their research. Because of its continued theoretical and practical interest, human genetics offers fascination and human fulfillment unparalleled by work in fields that are either primarily theoretical or entirely practical in subject matter.
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(2010). Introduction. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_1
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