@@ -6,12 +6,88 @@ This software is provided under the Real Time Genomics Ltd Software
66Licence Agreement for Academic Non-commercial Research Purposes
77only. See [ LICENSE.txt] ( LICENSE.txt )
88
9+ ## Introduction
10+
11+ There are many software packages available for next-gen sequencing
12+ analysis, here are some of the reasons to use RTG:
13+
14+ * Comprehensive, cohesive, fast, sensitive and accurate variant
15+ calling pipeline from FASTQ through to high-quality variants.
16+ * Robust, easy to use, and well supported.
17+ * Fast and accurate alignment, supporting popular sequencing
18+ technologies, including alignment of Complete Genomics Inc reads.
19+ * Automatic base-quality recalibration computed on-the-fly during
20+ mapping and applied during variant calling.
21+ * Variant calling both simple SNPs and complex haplotypes,
22+ automatically realigning when necessary.
23+ * Pedigree-aware pipeline, joint Bayesian calling of multiple samples
24+ in pedigrees with varying degrees of relatedness, from unrelated,
25+ trios, quads, larger families, multi-generation pedigrees.
26+ * Pedigree-aware joint calling automatically includes de novo
27+ discovery, including specific confidence scoring that the variant is
28+ de novo. Again, this includes information from larger families where
29+ available, not just trios. Offspring variant calls are automatically
30+ phased from inheritance.
31+ * Variant calling allows specification of population priors in either
32+ from general population variants or those in previously called
33+ samples.
34+ * Sex-aware pipeline, automatically mapping to the correct chromosomes
35+ for the sex of the sample, performing diploid or haploid variant
36+ calling as appropriate (including PAR regions).
37+ * Joint Bayesian somatic variant detection, including support for
38+ contamination, and providing post-calling updated contamination
39+ estimate. Supports site-specific somatic mutation priors that allow
40+ databases such as dbSNP/COSMIC/etc to support the somatic calling.
41+ * Tools for Q/A and sample checking: coverage analysis, detect
42+ chromosome abnormalities, sample mislabelling, incorrect pedigree.
43+ * Includes sophisticated variant comparison tools for benchmarking and
44+ ROC analysis to guide variant scoring and filtering.
45+ * Fast and comprehensive metagenomic analysis pipelines.
46+ * Species frequency composition and abundance analysis, including
47+ bounds estimates and confidence scores both at the species and
48+ higher taxon levels.
49+ * Species reported using both tabular data reports and interactive
50+ Krona HTML pie charts.
51+ * Contaminant filtering and sample similarity analysis.
52+ * Includes tools for building and managing species reference databases
53+ that include taxonomic structure (prebuilt databases are also
54+ available).
55+ * Search reads directly against protein databases for functional
56+ analysis.
57+ * Reproducible results -- unlike many other tools, the results don't
58+ change when you enable multi-threading or when you repeat the same
59+ run twice.
60+
61+
62+ RTG Core is available pre-packaged directly from our
63+ [ website] ( http://realtimegenomics.com/products/rtg-core/ ) , or follow
64+ the instructions below to build from this repository.
65+
66+ ## Support
67+
68+ A PDF user manual is included in the installation or can be
69+ [ viewed online] ( installer/resources/core/RTGOperationsManual.pdf ) .
70+
71+ You can use the commands in RTG Core to format your own reference
72+ datasets, or download common
73+ [ pre-formatted references] ( http://realtimegenomics.com/news/pre-formatted-reference-datasets/ )
74+ from our website.
75+
76+ An
77+ [ rtg-users] ( https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-users )
78+ discussion group is now available for general questions, tips, and
79+ other discussions.
80+
81+ To be informed of new software releases, subscribe to the low-traffic
82+ [ rtg-announce] ( https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-announce )
83+ group.
84+
985If you require a license for commercial use or wish to purchase
1086commercial support contact us via
[email protected] .
1187
1288---
1389
14- ## Prerequisites
90+ ## Prerequisites for building from source
1591
1692* Java 1.7 or later
1793* apache ant 1.9 or later
@@ -26,15 +102,15 @@ Core, so you must clone both repositories:
26102 $ cd rtg-core
27103
28104To update, you will need to perform a ` git pull ` on both
29- repositories. Advanced users may use ` git subtree ` to have both RTG
105+ repositories. Advanced users may use ` git subtree ` to have both RTG
30106Tools and RTG Core within a single repository (it's what we use during
31107development).
32108
33109## Compile / run unit tests
34110
35111 $ ant runalltests
36112
37- ## Building RTG Core
113+ ## Building RTG Core package
38114
39115To build the RTG Core Non-Commercial package which can be locally
40116installed and run:
@@ -47,46 +123,17 @@ This will create an installation zip file under `dist`.
47123
48124Uncompress the installation zip:
49125
50- $ cd /where/you/want/to/ install/
126+ $ cd /my/ install/dir /
51127 $ unzip /path/to/rtg-core/dist/rtg-core-VERSION-nojre.zip
52128
53129Follow the instructions contained in the ` README.txt ` . This build will
54130use the system Java by default, so ensure it is Java 1.7 or later.
55131
56- You can use the commands in RTG Core to format your own reference
57- datasets, or download common
58- [ pre-formatted references] ( http://realtimegenomics.com/news/pre-formatted-reference-datasets/ )
59- from our website.
60-
61132For a nice demonstration of the features of RTG Core for sex and
62133pedigree aware mapping and variant calling on data generated from
63134scratch using the RTG Core simulation tools, run the ` demo-family.sh `
64135script contained in the scripts of the installation directory:
65136
137+ $ cd /my/install/dir/rtg-core-VERSION/
66138 $ ./scripts/demo-family.sh $PWD/rtg
67139
68- A PDF user manual is included in the installation directory or can be
69- [ viewed online] ( installer/resources/core/RTGOperationsManual.pdf ) .
70-
71- ## Release history
72-
73- See [ doc/ReleaseNotes.txt] ( doc/ReleaseNotes.txt ) for full release
74- history details.
75-
76- ## Support
77-
78- An
79- [ rtg-users] ( https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-users )
80- discussion group is now available for general questions, tips, and
81- other discussions.
82-
83- To be informed of new software releases, subscribe to the low-traffic
84- [ rtg-announce] ( https://groups.google.com/a/realtimegenomics.com/forum/#!forum/rtg-announce )
85- group.
86-
87- Some email support will be available via
` [email protected] ` 88- which we will do our best to fulfill. If you have specific support or
89- service requirements, talk to us about our support offerings which
90- include guaranteed response times, training, project advice, priority
91- bug fixes and feature requests.
92-
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