Nicht-kodierende Mutationen
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  • 作者:Malte Spielmann ; Prof. Dr. med. Stefan Mundlos
  • 关键词:Cis ; regulatorische Elemente ; Strukturelle Aberrationen ; Topologische Dom?nen ; Humangenetik ; Genom ; Cis ; regulatory elements ; Structural variations ; Topological domains ; Human genetics ; Genome
  • 刊名:medizinische genetik
  • 出版年:2015
  • 出版时间:March 2015
  • 年:2015
  • 卷:27
  • 期:1
  • 页码:19-30
  • 全文大小:1,533 KB
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  • 刊物主题:Human Genetics; Reproductive Medicine; Pediatrics; Obstetrics/Perinatology;
  • 出版者:Springer Berlin Heidelberg
  • ISSN:1863-5490
文摘
Despite the great advances in genomic high-throughput technologies more than 40- of all patients in human genetics still remain without a molecular diagnosis. So far the focus has been on the 1.5- of the coding genome. This suggests that a large proportion of diseases may be caused by alterations outside the coding region and/or by structural variations that are not detectable with microarray-based comparative genomic hybridization (CGH) and whole exome sequencing. Recent efforts to annotate and analyze the non-coding genome can now effectively be used by human geneticists to analyze variants from whole genome data sets for potential cis-regulatory mutations. Additionally, it could be shown that the human genome is divided into domains which undertake a three dimensional regulatory active architecture via chromatin structures. This will broaden our view of genes and their regulatory landscapes and contribute to our understanding of pathomechanisms underlying human congenital diseases.

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