Skip to content

Commit

Permalink
update README and include number of loci for each db
Browse files Browse the repository at this point in the history
  • Loading branch information
mehrdadbakhtiari committed Mar 24, 2019
1 parent ad717c3 commit 1ffb86c
Showing 1 changed file with 11 additions and 3 deletions.
14 changes: 11 additions & 3 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -23,20 +23,28 @@ Alternatively, you can install dependencies and [install the adVNTR from source]

Data Requirements
-----------------
In order to genotype VNTRs, you need to either train models for loci of interest or use pre-trained models (recommended):
* To run adVNTR on trained VNTR models:
- Download [vntr_data.zip](https://cseweb.ucsd.edu/~mbakhtia/adVNTR/vntr_data.zip) and extract it inside the project directory.
- Download [vntr_data_recommended_loci.zip](https://cseweb.ucsd.edu/~mbakhtia/adVNTR/vntr_data_recommended_loci.zip)
and extract it inside the project directory. This includes a set of pre-trained VNTR models for Illumina (6719 loci)
and Pacbio (8960 loci) sequencing data.
- You can also download and use [vntr_data_genic_loci.zip](https://cseweb.ucsd.edu/~mbakhtia/adVNTR/vntr_data_genic_loci.zip)
for 158522 VNTRs that results in having much longer running time.

Alternatively, you can add model for custom VNTR. See [Add Custom VNTR](http://advntr.readthedocs.io/en/latest/tutorial.html#add-custom-vntr-label) for more information.
Alternatively, you can add model for custom VNTR. See [Add Custom VNTR](http://advntr.readthedocs.io/en/latest/tutorial.html#add-custom-vntr-label) for more information about training models for custom VNTRs.

Execution:
----------
Use following command to see the help for running the tool.

advntr --help

The program outputs the RU count genotypes of VNTRs. To specify a single VNTR by its ID use ``--vntr_id <id>`` option.
The program outputs the RU count genotypes of trained VNTRs. To specify a single VNTR by its ID use ``--vntr_id <id>`` option.
The list of some known VNTRs and their ID is available at [Disease-linked-VNTRs page](https://github.com/mehrdadbakhtiari/adVNTR/wiki/Disease-linked-VNTRs) in wiki.

See the demo below or [Quickstart](http://advntr.readthedocs.io/en/latest/quickstart.html) page to see an example
data set with step-by-step genotyping commands.

Demo input in BAM format
------------------------
* ``--alignment_file`` specifies the alignment file containing mapped and unmapped reads:
Expand Down

0 comments on commit 1ffb86c

Please sign in to comment.