Non-coding mutations

作者：Spielmann Malte; Mundlos Stefan^*

来源：Medizinische Genetik, 2015, 27(1): 19-28.

DOI：10.1007/s11825-014-0033-z

• Cis-regulatory elements
• Structural variations
• Topological domains
• Human genetics
• Genome

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.

• 出版日期2015-3
• 单位河北医科大学