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    GenomeSuite Analyzer: Human Genome Structural Variant Caller

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    Deployed on AWS
    Free Trial
    GenomeSuite Analyzer is a fast human genome structural variant (SV) caller for Nanopore long-read sequencing datasets. It accurately detects SVs in germline and somatic sequencing data.

    Overview

    GenomeSuite Analyzer performs ultra-rapid analysis of Nanopore long-read NGS data. It handles large data sets including human whole genomes, human exomes and human gene panels. It uses Nvidia GPUs (A100, V100) to dramatically speedup data analysis. Input data is Nanopore POD5 or FAST5 file formats or BAM files and output data is VCF file format. Analyzer reports on SVs >= 50bp including large insertions/deletions (indels), duplications, inversions, translocations, copy number variations (CNVs), complex rearrangements and mobile element insertions (MEIs).

    Highlights

    • Ultra-Rapid Turnaround
    • High Accuracy Variant Calls
    • Low Cost

    Details

    Delivery method

    Delivery option
    64-bit (x86) Amazon Machine Image (AMI)

    Latest version

    Operating system
    Ubuntu 22.04

    Deployed on AWS

    Features and programs

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    Pricing

    Free trial

    Try this product free for 5 days according to the free trial terms set by the vendor. Usage-based pricing is in effect for usage beyond the free trial terms. Your free trial gets automatically converted to a paid subscription when the trial ends, but may be canceled any time before that.

    GenomeSuite Analyzer: Human Genome Structural Variant Caller

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    Pricing is based on actual usage, with charges varying according to how much you consume. Subscriptions have no end date and may be canceled any time.
    Additional AWS infrastructure costs may apply. Use the AWS Pricing Calculator  to estimate your infrastructure costs.

    Usage costs (4)

     Info
    Dimension
    Cost/hour
    p3.2xlarge
    Recommended
    $10.00
    p3.16xlarge
    $10.00
    p4d.24xlarge
    $10.00
    p3.8xlarge
    $10.00

    Vendor refund policy

    No refunds.

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    Legal

    Vendor terms and conditions

    Upon subscribing to this product, you must acknowledge and agree to the terms and conditions outlined in the vendor's End User License Agreement (EULA) .

    Content disclaimer

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    Usage information

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    Delivery details

    64-bit (x86) Amazon Machine Image (AMI)

    Amazon Machine Image (AMI)

    An AMI is a virtual image that provides the information required to launch an instance. Amazon EC2 (Elastic Compute Cloud) instances are virtual servers on which you can run your applications and workloads, offering varying combinations of CPU, memory, storage, and networking resources. You can launch as many instances from as many different AMIs as you need.

    Version release notes

    Add FAST5 file processing. Add BAM file processing. Update Users Guide to include FAST5 and BAM file processing.

    Additional details

    Usage instructions

    The GenomeSuite Analyzer Users Guide is available here: https://github.com/TheSequencingCenter/GenomeSuite-Analyzer/blob/main/docs/GenomeSuite_Analyzer_Users_Guide.pdf  To launch GenomeSuite Analyzer: Click Continue to Subscribe Click Continue to Configuration Choose a Region Click Continue to Launch Choose an EC2 Instance Type Choose a Subnet (us-east-1f) Choose a Security Group Choose a Key Pair Click Launch Click EC2 Console If you get an error message Insufficient Capacity (or similar), you have three options: 1) wait a few minutes and try again, 2) select a different availability zone (subnet) and try again, 3) select a different region and try again. Login to the running EC2 instance from your workstation with: ssh -i KeyPair.pem ubuntu@PublicIP where KeyPair.pem is your key pair filename and PublicIP is obtained from the EC2 Console. To run GenomeSuite Analyzer enter: ./analyzer -b bucketname -s samplename -f filetype -m modelname where bucketname is the name of the S3 bucket that contains sample files, samplename is an arbitrary name, filetype is either pod5, fast5 or bam and modelname is a dorado basecaller model name.

    Support

    Vendor support

    Technical support for GenomeSuite Analyzer: support@thesequencingcenter.com 

    AWS infrastructure support

    AWS Support is a one-on-one, fast-response support channel that is staffed 24x7x365 with experienced and technical support engineers. The service helps customers of all sizes and technical abilities to successfully utilize the products and features provided by Amazon Web Services.

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