diff --git a/README.md b/README.md index 3a6275c..fc2217a 100755 --- a/README.md +++ b/README.md @@ -24,6 +24,14 @@ in the `src` directory. The executables will be in `build`. For debugging with g To report bugs, use the [issue](https://github.com/andrej-fischer/cloneHD/issues) interface of github. +# Full documentation + +The full documentation can be found in the `/docs/` subfolder. Click below. + +* [pre-filter](/docs/README-pre-filter.md) +* [filterHD](/docs/README-filterHD.md) +* [cloneHD](/docs/README-cloneHD.md) + # What are cloneHD and filterHD for? cloneHD is a software for reconstructing the subclonal structure of a @@ -59,20 +67,15 @@ prediction (red). (vii) The observed SNV frequencies, corrected for local ploidy, and per genotype (SNVs are assigned ramdomly according to the cloneHD SNV posterior). (All plots are created with Wolfram [Mathematica](http://www.wolfram.com/mathematica/).) -# Full documentation - -The full documentation can be found in the `/docs/` subfolder. Click below. - -* [pre-filter](/docs/README-pre-filter.md) -* [filterHD](/docs/README-filterHD.md) -* [cloneHD](/docs/README-cloneHD.md) - # Tips and tricks +* Note: all input files are assumed to be sorted by genomic coordinate. With Unix, this + can be guaranteed with `sort -k1n,1 -k2n,2 file.txt > sorted-file.txt`. + * Pre-filtering of data can be very important. If filterHD predicts many more jumps than you would expect, it might be necessary to pre-filter the data, removing variable regions, outliers or very short - segments (use programs `pre-filter` and `filterHD`). + segments (use programs the `pre-filter` and `filterHD`). * Make sure that the bias field for the tumor CNA data is meaningful. If a matched normal sample was sequenced with the same @@ -80,14 +83,17 @@ The full documentation can be found in the `/docs/` subfolder. Click below. bias field for the tumor CNA data. Follow the logic of the example given here. -* If the matched-normal sample was sequenced at lower coverage than the tumor sample, it might be necessary to run filterHD with a higher-than-optimal diffusion constant (set with `--sigma [double]`) to obtain a more faithful bias field. Otherwise, the filterHD solution is too stiff and you loose bias detail. +* If the matched-normal sample was sequenced at lower coverage than the tumor sample, + it might be necessary to run filterHD with a higher-than-optimal diffusion constant + (set with `--sigma [double]`) to obtain a more faithful bias field. Otherwise, the + filterHD solution is too stiff and you loose bias detail. * filterHD can sometimes run into local optima. In this case, it might be useful to set initial values for the parameters via `--jumpi [double]` etc. -* By default, cloneHD runs with mass gauging enabled. This seems like - an overkill, but is actually quite useful because you can see some - alternative explanations during the course of the analysis. +* By default, cloneHD runs with mass-gauging enabled. This seems wasteful, + but is actually quite useful because you can see some alternative explanations + during the course of the analysis. * Don't put too much weight on the BIC criterion. It was calibrated using simulated data. For real data, it should be supplemented with @@ -95,8 +101,10 @@ The full documentation can be found in the `/docs/` subfolder. Click below. fixed number of subclones and `--max-tcn [int]` to set the maximum possible total copy number. -* For exome sequencing data, the read depth bias can be enormous. The filterHD estimate - of the bias field might not be useful, especially in segmenting the data. - Use rather, if available, the jumps seen in the BAF data for both CNA and BAF. - +* If high copy numbers are expected only in a few chromosomes, you can increase performance + by using the `--max-tcn [file]` option to specify per-chromosome upper limits. +* For exome sequencing data, the read depth bias can be enormous. The filterHD estimate + of the bias field might not be very useful, especially in segmenting the tumor data. + Use rather, if available, the jumps seen in the BAF data for both CNA and BAF data + (give the BAF jumps file to both `--cna-jumps` and `--baf-jumps`).