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add documentation for --update and genotyping
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mehrdadbakhtiari committed Sep 27, 2018
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55 changes: 54 additions & 1 deletion docs/tutorial.rst
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Expand Up @@ -36,7 +36,58 @@ Each of these commands and their options is described below.

Genotype
^^^^^^^^
Under construction. In the meantime, please refer to the examples in the Installation page.
Use :code:`advntr genotype [options]` to genotype a VNTR using sequencing data.
Alignment file and working directory are required.

Summary of options:

:code:`--frameshift`: Use this option to identify frameshift instead of finding copy number of a VNTR.

:code:`--pacbio`: Use this flag to genotype VNTRs using PacBio sequencing data.

:code:`--update`: Use this option to iteratively update the model using real data before finding the genotype.

Input/output options:

+---------------------------+--------------------------------------------------------------------------------+
| -a/--alignment_file <file>| Alignment file in BAM format or SAM format |
+---------------------------+--------------------------------------------------------------------------------+
| -f/--fasta <file> | Fasta file containing raw reads |
+---------------------------+--------------------------------------------------------------------------------+
| -p/--pacbio | set this flag if input file contains PacBio reads instead of Illumina reads |
+---------------------------+--------------------------------------------------------------------------------+
| -n/--nanopore | set this flag if input file contains Nanopore MinION reads instead of Illumina |
+---------------------------+--------------------------------------------------------------------------------+

Algorithm options:

+---------------------------+--------------------------------------------------------------------------------+
| -fs/--frameshift | set this flag to search for frameshifts in VNTR instead of copy number. |
+---------------------------+--------------------------------------------------------------------------------+
| -e/--expansion | set this flag to determine long expansion from PCR-free data |
+---------------------------+--------------------------------------------------------------------------------+
| -c/--coverage <float> | average sequencing coverage in PCR-free sequencing |
+---------------------------+--------------------------------------------------------------------------------+
| --haploid | set this flag if the organism is haploid |
+---------------------------+--------------------------------------------------------------------------------+
| -naive/--naive | use naive approach for PacBio reads |
+---------------------------+--------------------------------------------------------------------------------+

Other options:

+---------------------------+--------------------------------------------------------------------------------+
| -h/--help | show this help message and exit |
+---------------------------+--------------------------------------------------------------------------------+
| --working_directory <path>| working directory for creating temporary files needed for computation |
+---------------------------+--------------------------------------------------------------------------------+
| -m/--models <file> | file containing VNTRs information [vntr_data/hg19_VNTRs.db] |
+---------------------------+--------------------------------------------------------------------------------+
| -t/--threads <int> | number of threads [4] |
+---------------------------+--------------------------------------------------------------------------------+
| -u/--update | set this flag to iteratively update the model |
+---------------------------+--------------------------------------------------------------------------------+
| -vid/--vntr_id <text> | comma-separated list of VNTR IDs |
+---------------------------+--------------------------------------------------------------------------------+


View VNTRs
Expand Down Expand Up @@ -74,6 +125,8 @@ Other options:
| -h/--help |show this help message and exit |
+-------------------------+--------------------------------+

You can use :code:`--update` in genotyping step to iteratively update the model using real data.


Delete a VNTR
^^^^^^^^^^^^^
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