New QC tools / Improved machine learning / free simulation tools

May 16, 2017

Real Time Genomics are pleased to announce the availability of new releases of our full analysis suite, RTG Core, and our utility package, RTG Tools. This release includes new features and performance improvements. Some of the highlights of this release:

• Improvements aimed at preprocessing and QC. In particular, RTG includes two new commands, fastqtrim and petrim, for preprocessing FASTQ files to apply various kinds of trimming before entering the NGS pipeline. These commands greatly expand what was previously available during data formatting.
• The suite of simulation commands that were previously only available as part of RTG Core have been included in the RTG Tools package. These commands encompass simulation of reference genomes (genomesim), simulation of population-level variants (popsim), individual sample genomes using population variants (samplesim), simulation of samples as member of a pedigree obeying inheritance rules (childsim), simulation of de-novo variants (denovosom), generation of a genome given a VCF of sample variants (samplereplay), and read simulation according to a range of sequencer parameters (readsim/cgsim).
• Improvements to the prebuilt AVR models that perform variant scoring. These models have been rebuilt using training data incorporating the latest truth sets produced by the GIAB initiative as well as improvements to the underlying machine learning algorithms.
• Initial support for accepting CRAM files as input to variant calling commands and most other commands that accept alignments as input. For some commands this may now require specifying a reference SDF in order to decode the CRAM files.
• User manual improvements, in particular the baseline progressions section has been rearranged to better illustrate how to run end-to-end RTG calling pipelines that make best use of RTG features such as sex-aware and pedigree-aware variant calling.

If you haven't used RTG Core before (or maybe even if you have), we suggest you run the demo-family.sh script that runs through a short end-to-end demonstration of sex-aware and pedigree-aware family variant calling, including de novo variant detection and variant evaluation with vcfeval. (It also makes a nice demo of our comprehensive simulation tools.)

For more information including downloads, see the product page for RTG Core or RTG Tools.