Setting | Description |
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Use ROIs in GenBank | Available only if the loaded project used a GenBank reference file. If you select this option, then you can also specify the number of bps before and after the ROIs to consider when calling mutations. |
Use external ROIs | Available for any project. You can use ROIs that are defined in an external file. The external file can be a BED file, a comma-delimited text file that specifies position or gene name, or a VCF file. See External file types. Tip: You can also click File Types to open a File Types dialog box that details the external files and their formats. |
Include Negative Positions within ROI | Select this option to list every position in every ROI in the report, whether or not there is a variant at the position. |
File Type | Description |
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BED file | A BED file is a tab-delimited text file. You can upload a BED file only if the reference sequence contains chromosome information, which means that the reference sequence must be either a preloaded reference that NextGENe supplies, or a GenBank reference file that contains chromosome information. |
Text file | You can load a text file that is comma-delimited, semi-colon delimited, or tab-delimited. The file must contain one of the following lists: • TXT Region Format - Specific reference locations (position number or a range of positions (start position number - end position number)). • TXT Gene Format - A list of reference gene names. |
VCF Format | You can upload a VCF file only if the reference sequence contains chromosome information, which means that the reference sequence must be either a preloaded reference that SoftGenetics supplies, or a GenBank reference file that contains chromosome information. Note: See http://www.1000genomes.org for the conventions and extensions adopted by the 1000 Genomes Project for reporting variants in the most recent VCF format. |