title: AmalgamScope: merging annotations data across the human genome.
abstract: The past years have shown an enormous advancement in sequencing and array-based technologies, producing supplementary or alternative views of the genome stored in various formats and databases. Their sheer volume and different data scope pose a challenge to jointly visualize and integrate diverse data types. We present AmalgamScope a new interactive software tool focusing on assisting scientists with the annotation of the human genome and particularly the integration of the annotation files from multiple data types, using gene identifiers and genomic coordinates. Supported platforms include next-generation sequencing and microarray technologies. The available features of AmalgamScope range from the annotation of diverse data types across the human genome to integration of the data based on the annotational information and visualization of the merged files within chromosomal regions or the whole genome. Additionally, users can define custom transcriptome library files for any species and use the file exchanging distant server options of the tool.
authors: Bioinformatics and Medical Informatics Team, Biomedical Research Foundation, Academy of Athens, 115 27 Athens, Greece.
authors: Georgia
authors: G
authors: Tsiliki
authors: Bioinformatics and Medical Informatics Team, Biomedical Research Foundation, Academy of Athens, 115 27 Athens, Greece ; Henley Business School, Business Informatics, University of Reading, Whiteknights, Reading RG6 6UD, Uk.
authors: Konstantinos
authors: K
authors: Tsaramirsis
authors: Bioinformatics and Medical Informatics Team, Biomedical Research Foundation, Academy of Athens, 115 27 Athens, Greece.
authors: Sophia
authors: 0000-0002-8841-2864
authors: S
authors: Kossida
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D058977:Molecular Sequence Annotation / Q000379:methods*; D012984:Software