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Merge pull request #10 from PacificBiosciences/segment_detail
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updates to docs to match output prefix
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holtjma authored Jun 17, 2024
2 parents 9a9f976 + 421e5fb commit 1b3f2af
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7 changes: 7 additions & 0 deletions CHANGELOG.md
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# v0.12.0
## Changes
- **Breaking change**: The `methbat segment` output `--output-segments` has been changed to `--output-prefix`. It will now generate the following output files with extensions of the given prefix:
- `{OUT_PREFIX}.meth_regions.bed` - The BED file with merged regions, same output as the previous `--output-segments` option
- `{OUT_PREFIX}.combined_methyl.bedgraph` - _New_ output that contains the underlying combined methylation values for each segmented region
- `{OUT_PREFIX}.asm.bedgraph` - _New_ output that contains the underlying ASM values for each segmented region

# v0.11.0
## Changes
- Modifies the segmentation algorithm to prevent large segments from spanning CpG data gaps. The new algorithm will automatically create segment break points between two consecutive CpGs that exceed a maximum gap threshold. This reduces segment size inflation around regions with low coverage and/or absent phasing information.
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5 changes: 4 additions & 1 deletion docs/user_guide.md
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Parameters:
* `--input-prefix {IN_PREFIX}` - the prefix for the outputs from [pb-CpG-tools](https://github.com/PacificBiosciences/pb-CpG-tools), these outputs contain CpG metrics aggregated at each CpG locus
* `--output-segments {OUT_BED}` - The path to the output BED file. The fourth column indicates the segment categorization: Methylated (M), Unmethylated (U), or AlleleSpecificMethylation (ASM)
* `--output-prefix {OUT_PREFIX}` - The path to the prefix for all output files. The following files will be generated:
* `{OUT_PREFIX}.meth_regions.bed` - BED file with merged regions. The fourth column indicates the segment categorization: Methylated (M), Unmethylated (U), or AlleleSpecificMethylation (ASM).
* `{OUT_PREFIX}.combined_methyl.bedgraph` - BEDGRAPH file with raw values from combined methylation segmentation. The fourth column indicates the combined methylation average for the segment; range 0.0 (unmethylated) to 1.0 (methylated).
* `{OUT_PREFIX}.asm.bedgraph` - BEDGRAPH file with raw values from ASM segmentation. The fourth column indicates the ASM average for the segment, calculated as: (methylation of haplotype 2) - (methylation of haplotype 1); range -1.0 (H1 methylated, H2 unmethylated) to 1.0 (H1 unmethylated, H2 methylated).

### Common segmentation options
* `--condense-bed-labels` - Condenses the output labels to an abbreviated form (e.g., Methylated -> M)
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