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README for PyLOH 1.1.3 | ||
README for PyLOH 1.2.0 | ||
====================== | ||
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@@ -23,7 +23,8 @@ heterozygosity - within an unified probabilistic framework. | |
We derive algorithms to solve our model, and implement | ||
them in a software package called PyLOH. We also introduce a | ||
novel visualization method "BAF heat map" to to characterize | ||
the cluster pattern of LOH. | ||
the cluster pattern of LOH. If you have any questions, please | ||
email [email protected] | ||
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INSTALL | ||
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**--segments_bed** Use the genome segmentation stored in SEGMENTS.bed. If not provided, use 22 autosomes as the segmentaion. | ||
But using automatic segmentation algorithm to generate SEGMENTS.bed is highly recommended, such as [BICseq](http://compbio.med.harvard.edu/Supplements/PNAS11.html). | ||
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**--WES** Flag indicating whether the BAM files are whole exome sequencing(WES) or not. If not provided, the BAM files | ||
are assumed to be whole genome sequencing(WGS). | ||
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**--min_depth** Minimum depth in both normal and tumor sample required to use a site in the analysis. | ||
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**--min_base_qual** Minimum base quality required for each base. | ||
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| Column | Definition | | ||
| :--------------- | :-------------------------------------| | ||
| allele_type | Estimated allele type of the segment | | ||
| copy_number | Estimated copy number of the segment | | ||
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**\*.PyLOH.purity** Estimated tumor purity. | ||
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@@ -212,3 +215,8 @@ $ BICseq2bed.py segments.BICseq segments.bed --seg_length 1000000 | |
``` | ||
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**--seg_length** Only convert segments with length longer than the threshold. | ||
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Reference | ||
========= | ||
Li, Y., Xie, X. (2014). Deconvolving tumor purity and ploidy by integrating copy number alterations and loss of heterozygosity. Bioinformatics. |