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Journal Article

Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50606

Ullmann,  Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Ullmann, R. (2008). Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen. Medizinische Genetik, 20(4), 401-405. doi:10.1007/s11825-008-0137-4.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-7EC3-6
Abstract
Structural variants (SV) are defined as chromosomal changes larger than 1kb. Although technical progress has enabled improved characterization of the qualitative and quantitative features of SV, their phenotypic consequences remain poorly understood. Distinguishing between a neutral variant, a predisposing factor and a disease-causing aberration represents one of the major challenges in today’s human genetic diagnostics.