Build Index
Buid index
Generate index for the panel
buildIndex
Generate index for the panel
Usage:
Options:
Name | Type | Description | Default |
---|---|---|---|
--panelFile |
Path | File with panel regions. File should have four tab-delimited columns: Chr, Start, End, Gene | _required |
--outfile |
Path | Output file name. | None |
--padding |
integer | Padding (bp) for regions. | 0 |
--chr / --no-chr |
boolean | Add 'chr' prefix | False |
--help |
boolean | Show this message and exit. | False |
Input file format for --panelFile
Chr | Start | End | Gene |
---|---|---|---|
chr1 | 998582 | 998582 | chr1.998582.G.C |
chr1 | 1098421 | 1098421 | chr1.1098421.C.T |
chr1 | 1646371 | 1646371 | chr1.1646371.G.T |
chr1 | 1718760 | 1718886 | GNB1 |
chr1 | 1720482 | 1720718 | GNB1 |
Output files
buildIndex
generates two output files.*_regions.txt
file- This file consists of expanded panel region positions retaining gene and length information
- This file is used to calculate region level QC metrics using
computeCoverageQC
*_uniquePositions.txt
file- This file consists of unique positions in the panel to calculate sample level QC metrics using
computeCoverageQC
- This file consists of unique positions in the panel to calculate sample level QC metrics using
Output format
*_regions.txt
file (partial output)
Note
Please note that original region chr1:1718760-1718886 is being expanded over individual positions as shown under Chr.Pos column
Chr.Pos | Chr | Start | End | Gene | RegionLength |
---|---|---|---|---|---|
chr1.1718760 | chr1 | 1718760 | 1718886 | GNB1 | 127 |
chr1.1718761 | chr1 | 1718760 | 1718886 | GNB1 | 127 |
chr1.1718762 | chr1 | 1718760 | 1718886 | GNB1 | 127 |
chr1.1718763 | chr1 | 1718760 | 1718886 | GNB1 | 127 |
*_uniquePositions.txt
file (partial output)
Chr.Pos |
---|
chr1.100345409 |
chr1.100939777 |
chr1.101106981 |
chr1.101750747 |
chr1.102322817 |