Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen

Ullmann, Reinhard

doi:10.1007/s11825-008-0137-4

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen

MPS-Authors

/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;

External Resource

No external resources are shared

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

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: https://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.