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InstallationUsing this software0. For impatient users1. Data inputs Coordinate system 2. Create a project 3. Annotate a project Functional categories Using user annotation track 4. Filter for quality scores 5. Main user interface 6. SVA genome browser Sections overview Identified variants Public data 7. SVA tables SNV INDEL SV 8. Selecting genes or regions Gene symbol Bio-type Bio-pathway or GO OMIM disorder Genomic region 9. Analysis Gene prioritization Variant prioritization Fisher's exact test 10. Exome or targeted capture sequencing A command line toolFAQRequests and discussions |
INDEL table
This page will describe the structure and function of the table listing INDELs. A. A drop down box allows a user to select a functional category, illustrated below. The definition of these functional categories are detailed here. B. There are a number of other filters also available for selecting variants. B.1. A "homozygosity filter" allows one to select only homozygous (in any subjects) INDELs . B.2. A "confidence score filter" allows one to perform quality score filter on INDELs. This process is detailed here. B.3. An "RMR filter" allows one to select INDELs located in a repetitive region, or a non-repetitive region. Repetitive region here is defined using RepeatMasker. C. A drop down box allows a user to select different pages based on genomic locations. By default one table page can display up to 1000 records. D. Exporting the variant list to a text file, including the full-length list but not only the records listed on this page. E. A "displayed columns" button determine the columns showed in the table (F). Clicking on this table activates this dialog: F. The table. Its content is determined by button "displayed columns" (E). G. Hyperlinks (in blue) are clickable for details. In the INDEL table, three items are hyperlink-enabled: G.1 INDEL ID. Clicking on this item will browse this INDEL in SVA genome browser. G.2 Number of subjects carrying INDEL. Clicking on this item will show the subject details. G.3. Transcripts. Clicking on this item will browse this transcript in SVA genome browser.
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