DNA Sequence Analysis
Sequence analysis with RTG Investigator enables DNA sequencing applications for clinical research in genetic disease and rare disorders. The RTG Investigator sequence analysis software program delivers maximum read mapping sensitivity for gapped alignment of nucleotide sequence with no sacrifice in processing speed, which makes it the perfect match for the massive data volumes associated with human genome sequencing. In ready-to-run variant detection and metagenomics analysis pipelines, this core technology can be quickly put to use for human genome sequence analysis investigations.
DNA Sequencing Applications
| Sequence Methodology | Example | Medical Applications | Discovery Goal |
| Whole Genome Sequencing | Illumina Sequence Analysis | Studies of familial diseases and rare disorders, pharmacogenomics, cancer genome diagnostics | Common and rare sequence variants and disease causing mutations, structural variants, CNVs, genome rearrangements |
| Tumor/Normal Paired Sequencing | Cancer Genome Research | Cancer genomics | Identify tumor-specific variants, gene fusions, LOH, CNVs |
| Exome Sequencing | Ion Torrent Sequence Analysis | Disease studies and basic research investigations | Sequence variants in coding regions |
| Metagenomics | Human Microbiome Analysis | Pathogen discovery and normal vs. disease profiling, metabolic pathway analysis | Bacterial and viral genome identification, drug targeting (e.g. MRSA) |
Gapped Alignment
RTG Investigator includes a gapped alignment algorithm that is highly tolerant of sequence mismatches introduced by machine error and variations between a sample and genome reference. In addition to optimal sensitivity, gapped alignment gives investigators greater flexibility in experiments that require sequencing alignment across species (e.g. mouse to human) or against large, heterogeneous sequence databases.