GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants

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• 作者：Katrin Tebel ; Vivien Boldt ; Anne Steininger ; Matthias Port…
• 关键词：DNA copy number variants ; Integrative visualization ; Microarray ; NGS
• 刊名：BMC Bioinformatics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：2446KB
• 刊物主题：Bioinformatics; Microarrays; Computational Biology/Bioinformatics; Computer Appl. in Life Sciences; Algorithms;
• 出版者：BioMed Central
• ISSN：1471-2105
• 卷排序：18

文摘

BackgroundThe analysis of DNA copy number variants (CNV) has increasing impact in the field of genetic diagnostics and research. However, the interpretation of CNV data derived from high resolution array CGH or NGS platforms is complicated by the considerable variability of the human genome. Therefore, tools for multidimensional data analysis and comparison of patient cohorts are needed to assist in the discrimination of clinically relevant CNVs from others.