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This update fixes the documentation to reflect recent changes. In particular the quick start demo and the tutorial now refer to the Snakemake workflow instead of the (now obsolete) `kevlar simplex` command.
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@@ -25,7 +25,6 @@ Documentation for **kevlar** | |
terms | ||
formats | ||
banding | ||
sim | ||
cli | ||
conduct | ||
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@@ -1,30 +1,32 @@ | ||
Quick start | ||
=========== | ||
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If you have not already done so, install kevlar using :doc:`the following instructions <install>`. | ||
If you have not already done so, install kevlar using :doc:`the following instructions <install>`, and Snakemake version 5.0 or greater. | ||
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This gives a crash course on running kevlar's simplex analysis workflow. | ||
The ``kevlar simplex`` command should be able to run on a laptop in less than 5 minutes while consuming less than 200 Mb of RAM for this demo data set. | ||
The results (``variant-calls.vcf``) should include 5 variant calls: a 300 bp insertion and 4 single-nucleotide variants. | ||
The simplest way to execute kevlar's entire *de novo* variant discovery workflow is using the provided Snakemake workflow configuration. | ||
Processing the example data set below should be able to run on a laptop in less than 5 minutes while consuming less than 200 Mb of RAM. | ||
The results (``workdir/calls.scored.sorted.vcf.gz``) should include 5 variant calls: a 300 bp insertion and 4 single-nucleotide variants. | ||
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A :doc:`more detailed tutorial is available <tutorial>`, and a complete listing of all available configuration options for each script can be found in :doc:`the CLI documentation <cli>`, or by executing ``kevlar <subcommand> -h`` in the terminal. | ||
A :doc:`more detailed tutorial is available <tutorial>`, and a complete listing of all available configuration options for each kevlar command can be found in :doc:`the CLI documentation <cli>`, or by executing ``kevlar <subcommand> -h`` in the terminal. | ||
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.. highlight:: none | ||
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.. code:: | ||
# Download data | ||
curl -L https://s3-us-west-1.amazonaws.com/noble-trios/helium-mother-reads.fq.gz -o mother.fq.gz | ||
curl -L https://s3-us-west-1.amazonaws.com/noble-trios/helium-father-reads.fq.gz -o father.fq.gz | ||
curl -L https://s3-us-west-1.amazonaws.com/noble-trios/helium-proband-reads.fq.gz -o proband.fq.gz | ||
curl -L https://s3-us-west-1.amazonaws.com/noble-trios/helium-refr.fa.gz -o refr.fa.gz | ||
bwa index refr.fa.gz | ||
kevlar simplex \ | ||
--case proband.fq.gz --control mother.fq.gz --control father.fq.gz \ | ||
--novel-memory 50M --filter-memory 1M --filter-fpr 0.005 --mask-memory 5M \ | ||
--mask-files refr.fa.gz \ | ||
--threads 4 --ksize 31 \ | ||
--out variant-calls.vcf \ | ||
refr.fa.gz | ||
# Download and format configuration file | ||
curl -L https://s3-us-west-1.amazonaws.com/noble-trios/helium-config.json \ | ||
| sed "s:/home/user/Desktop:$(pwd):g" > helium-config.json | ||
# Invoke the workflow | ||
snakemake \ | ||
--snakefile kevlar/workflows/mark-I/Snakefile \ | ||
--configfile helium-config.json --cores 4 --directory workdir -p calls |
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