GenomeSuite Analyzer
Human Genome
Structural Variant Caller
GenomeSuite Analyzer is a human genome structural variant (SV) caller for Nanopore long-read sequencing datasets. It accurately detects SV’s in germline, somatic and population-level sequencing data.
Discover Hidden Genetic Insights
Discover critical structural variants with our advanced algorithms. Detect complex genomic rearrangements with unparalleled accuracy, revealing crucial information about disease risks and inheritance patterns.
Accelerate Genetic Analysis Time
Our streamlined software processes whole genomes in hours, not days, without sacrificing precision. Rapidly identify insertions, deletions, inversions, and translocations to keep your projects on schedule and your discoveries flowing. Speed up your workflow for time critical diagnostics.
Easy Bioinformatics Pipeline Integration
With support for Nanopore POD5 and FAST5 file formats, you'll spend less time wrangling data and more time interpreting it. Trust in results backed by rigorous validation and join the growing community of researchers advancing the field of structural genomics.
About GenomeSuite Analyzer
High Sensitivity: Accurately detects complex SVs, including repeat-rich regions
Long-read analysis: Works with Oxford Nanopore sequencer long-read datasets
Precision: Capable of read-based phasing and accurate breakpoint detection
Automatic Filtering: Filters out false positive events automatically
Low-Coverage Data Compatibility: Operates effectively on low-coverage datasets, making it cost-efficient
Discovery of Novel Variants: Has uncovered thousands of novel variants in various genomic datasets
GenomeSuite Analyzer Detects Many SVs
Structural variant changes can significantly impact an organism's phenotype and health. By identifying a wide range of structural variants, GenomeSuite Analyzer provides a more complete picture of genetic diversity within populations, aid in diagnosing genetic disorders, and contribute to our understanding of evolutionary processes. This capability is critical in personalized medicine, where a thorough understanding of an individual's genetic makeup can inform treatment decisions and disease risk assessments.
Deletions
Duplications
Insertions
Inversions
Translocations
Copy Number Variants (CNVs)
Tandem Duplications
Segmental Duplications
Complex Rearrangements
Chromothripsis
Chromoplexy
Balanced Translocations
Unbalanced Translocations
Ring Chromosomes
Dicentric Chromosomes
Large Insertions (Transposable Elements)
Subtelomeric Rearrangements
Telomere Shortening
Telomere Elongation
Polymorphic Inversions
Microsatellite Expansions
Large Insertions (Transposable Elements)
Subtelomeric Rearrangements
Telomere Shortening
Telomere Elongation
Polymorphic Inversions
Microsatellite Expansions
Variable Number Tandem Repeats (VNTRs)
Heterochromatic Variations
Chromosomal Fusions
Chromosomal Fissions
Large-scale Structural Polymorphisms
Intra-chromosomal Translocations
Inter-chromosomal Translocations
Structural Variants involving Repetitive Elements
Chromosomal Duplication/Amplifications
Gene Fusions
Large Segmental Duplications
Mobile Element Insertions
Non-allelic Homologous Recombination (NAHR) Variants
Chromosomal Aneuploidy
Isochromosomes
Gene Conversion Events
Human Reference Genome
GenomeSuite Analyzer uses T2T-CHM13v2.0+Y as the reference genome for sequence alignments and structural variant calls.
T2T-CHM13v2.0+Y is the first complete, gapless assembly of the human genome. It is considered the gold standard for bioinformatic analysis of human genetic variation.
FAQ
How do I use Analyzer?
Analyzer is available in Amazon Web Services (AWS) as an Amazon Machine Image (AMI).
What type of human genome data does it use?
Analyzer processes human whole genome sequencing datasets, human exome datasets and human gene panels.
What type of sequencing data does Analyzer use?
Analyzer processes raw data files in POD5 or FAST5 format from Oxford Nanopore sequencers.
Why does whole genome analysis take much longer to run than exome analysis?
Human whole genome sequencing datasets are ca. 64X larger than human exome datasets. Exomes only represent about 1% - 2% of the entire human genome. Thus, the time required for analysis of the human exome is a fraction of whole genome.
Why is Analyzer so fast?
Analyzer uses NVIDIA GPU’s in the Hopper (H100), Ampere (A100) and Volta (V100) architectures for high-performance structural variant calling. These GPU’s are the fastest processors available for human genome analysis.
How long does it take to run a sample?
The turnaround time varies depending on the type of required analysis (whole genome, exome, gene panel) and the desired turnaround time. Whole genome analysis with the fastest possible turnaround time takes about 2 hours. Exome analysis with normal turnaround time takes about 10 minutes.
What human reference genome does Analyzer use for variant calling?
Analyzer uses the T2T-CHM13v2.0+Y human reference genome from the T2T consortium. This is the current gold standard for reference genomes.
How are results delivered?
Analyzer generates a standard VCF file that shows all of the identified structural variants. VCF files can be used in a wide variety of applications for downstream analysis, including those for correlating SV’s with disease states and drug recommendations.
How much does it cost?
The cost varies depending on the type of sequencing performed (whole genome, exome, gene panel) and the desired turnaround time. Contact Us to receive a quote.
How can I get support?
We provide extensive support for Analyzer. We can help with running Analyzer, estimating turnaround times, estimating costs working with input datasets and output results. Send us a note at support@thesequencingcenter.com or fill in the Contact Us form.
Need documentation support?
Quickly access, configure and run GenomeSuite Analyzer.