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README.md

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@@ -6,12 +6,88 @@ This software is provided under the Real Time Genomics Ltd Software
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Licence Agreement for Academic Non-commercial Research Purposes
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only. See [LICENSE.txt](LICENSE.txt)
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## Introduction
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There are many software packages available for next-gen sequencing
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analysis, here are some of the reasons to use RTG:
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* Comprehensive, cohesive, fast, sensitive and accurate variant
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calling pipeline from FASTQ through to high-quality variants.
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* Robust, easy to use, and well supported.
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* Fast and accurate alignment, supporting popular sequencing
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technologies, including alignment of Complete Genomics Inc reads.
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* Automatic base-quality recalibration computed on-the-fly during
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mapping and applied during variant calling.
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* Variant calling both simple SNPs and complex haplotypes,
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automatically realigning when necessary.
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* Pedigree-aware pipeline, joint Bayesian calling of multiple samples
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in pedigrees with varying degrees of relatedness, from unrelated,
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trios, quads, larger families, multi-generation pedigrees.
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* Pedigree-aware joint calling automatically includes de novo
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discovery, including specific confidence scoring that the variant is
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de novo. Again, this includes information from larger families where
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available, not just trios. Offspring variant calls are automatically
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phased from inheritance.
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* Variant calling allows specification of population priors in either
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from general population variants or those in previously called
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samples.
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* Sex-aware pipeline, automatically mapping to the correct chromosomes
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for the sex of the sample, performing diploid or haploid variant
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calling as appropriate (including PAR regions).
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* Joint Bayesian somatic variant detection, including support for
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contamination, and providing post-calling updated contamination
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estimate. Supports site-specific somatic mutation priors that allow
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databases such as dbSNP/COSMIC/etc to support the somatic calling.
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* Tools for Q/A and sample checking: coverage analysis, detect
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chromosome abnormalities, sample mislabelling, incorrect pedigree.
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* Includes sophisticated variant comparison tools for benchmarking and
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ROC analysis to guide variant scoring and filtering.
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* Fast and comprehensive metagenomic analysis pipelines.
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* Species frequency composition and abundance analysis, including
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bounds estimates and confidence scores both at the species and
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higher taxon levels.
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* Species reported using both tabular data reports and interactive
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Krona HTML pie charts.
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* Contaminant filtering and sample similarity analysis.
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* Includes tools for building and managing species reference databases
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that include taxonomic structure (prebuilt databases are also
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available).
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* Search reads directly against protein databases for functional
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analysis.
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* Reproducible results -- unlike many other tools, the results don't
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change when you enable multi-threading or when you repeat the same
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run twice.
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RTG Core is available pre-packaged directly from our
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[website](http://realtimegenomics.com/products/rtg-core/), or follow
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the instructions below to build from this repository.
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## Support
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A PDF user manual is included in the installation or can be
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[viewed online](installer/resources/core/RTGOperationsManual.pdf).
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You can use the commands in RTG Core to format your own reference
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datasets, or download common
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[pre-formatted references](http://realtimegenomics.com/news/pre-formatted-reference-datasets/)
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from our website.
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An
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[rtg-users](https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-users)
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discussion group is now available for general questions, tips, and
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other discussions.
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To be informed of new software releases, subscribe to the low-traffic
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[rtg-announce](https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-announce)
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group.
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If you require a license for commercial use or wish to purchase
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commercial support contact us via [email protected].
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---
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## Prerequisites
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## Prerequisites for building from source
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* Java 1.7 or later
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* apache ant 1.9 or later
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$ cd rtg-core
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To update, you will need to perform a `git pull` on both
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repositories. Advanced users may use `git subtree` to have both RTG
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repositories. Advanced users may use `git subtree` to have both RTG
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Tools and RTG Core within a single repository (it's what we use during
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development).
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## Compile / run unit tests
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$ ant runalltests
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## Building RTG Core
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## Building RTG Core package
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To build the RTG Core Non-Commercial package which can be locally
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installed and run:
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Uncompress the installation zip:
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$ cd /where/you/want/to/install/
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$ cd /my/install/dir/
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$ unzip /path/to/rtg-core/dist/rtg-core-VERSION-nojre.zip
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Follow the instructions contained in the `README.txt`. This build will
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use the system Java by default, so ensure it is Java 1.7 or later.
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You can use the commands in RTG Core to format your own reference
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datasets, or download common
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[pre-formatted references](http://realtimegenomics.com/news/pre-formatted-reference-datasets/)
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from our website.
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For a nice demonstration of the features of RTG Core for sex and
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pedigree aware mapping and variant calling on data generated from
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scratch using the RTG Core simulation tools, run the `demo-family.sh`
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script contained in the scripts of the installation directory:
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$ cd /my/install/dir/rtg-core-VERSION/
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$ ./scripts/demo-family.sh $PWD/rtg
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A PDF user manual is included in the installation directory or can be
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[viewed online](installer/resources/core/RTGOperationsManual.pdf).
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## Release history
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See [doc/ReleaseNotes.txt](doc/ReleaseNotes.txt) for full release
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history details.
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## Support
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An
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[rtg-users](https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-users)
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discussion group is now available for general questions, tips, and
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other discussions.
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To be informed of new software releases, subscribe to the low-traffic
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[rtg-announce](https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-announce)
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group.
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Some email support will be available via `[email protected]`
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which we will do our best to fulfill. If you have specific support or
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service requirements, talk to us about our support offerings which
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include guaranteed response times, training, project advice, priority
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bug fixes and feature requests.
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