Overview
DoiT's Human Genome Analytics App harnesses the power of AWS services, including the advanced Claude 3.5 Sonnet via AWS Bedrock, to deliver rapid insights from complex genomic data. This innovative solution automates the analysis of Variant Call Format (VCF) files, empowering healthcare professionals and researchers with a tool designed for personalized medicine and genomic research. Key features include secure processing of patient data, automated annotation using comprehensive genomic databases, and AI-driven summarization of clinically relevant findings, all through a user-friendly web interface.
The app facilitates faster genomic interpretation, enhancing clinical decision-making while ensuring data security and compliance with healthcare standards. With a scalable architecture, it is suitable for clinical geneticists, precision medicine researchers, and pharmaceutical companies alike. Available as an AWS Marketplace AMI, it offers a streamlined deployment process, making it an ideal solution for organizations aiming to leverage genomic data effectively.
Highlights
- Automated VCF Analysis: Streamlines the processing of complex genomic data by automating the annotation and analysis of Variant Call Format (VCF) files, enabling faster clinical decision-making.
- AI-Powered Insights: Utilizes Bedrock and Claude 3.5 Sonnet to provide AI-driven summarization of clinically and pharmaceutically relevant findings, enhancing personalized medicine initiatives.
- Robust Security Features: Ensures secure handling of patient data with user authentication, data encryption, and compliance with healthcare standards, making it a reliable choice for healthcare professionals.
Details
Typical total price
$4.284/hour
Features and programs
Financing for AWS Marketplace purchases
Pricing
- ...
Instance type | Product cost/hour | EC2 cost/hour | Total/hour |
|---|---|---|---|
m4.16xlarge | $0.00 | $3.20 | $3.20 |
m5.16xlarge | $0.00 | $3.072 | $3.072 |
m5.24xlarge | $0.00 | $4.608 | $4.608 |
m5.metal | $0.00 | $4.608 | $4.608 |
m5a.16xlarge | $0.00 | $2.752 | $2.752 |
m5a.24xlarge | $0.00 | $4.128 | $4.128 |
m5ad.16xlarge | $0.00 | $3.296 | $3.296 |
m5ad.24xlarge | $0.00 | $4.944 | $4.944 |
m5d.16xlarge | $0.00 | $3.616 | $3.616 |
m5d.24xlarge | $0.00 | $5.424 | $5.424 |
Additional AWS infrastructure costs
Type | Cost |
|---|---|
EBS General Purpose SSD (gp3) volumes | $0.08/per GB/month of provisioned storage |
Vendor refund policy
No refunds will be issued under any circumstances, including but not limited to dissatisfaction or software performance. Your continued use of the software constitutes acceptance of this no-refund policy.
Legal
Vendor terms and conditions
Content disclaimer
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
Initial public release
Additional details
Usage instructions
- Create an S3 bucket where the input data (vcf file) will be stored.
- Create a role in IAM, grant read/write permissions to the bucket. Also add invoke_model permissions for bedrock in this role.
- Launch AMI in a VPC-Subnet that can reach S3 and Bedrock. A private NAT with S3, bedrock endpoint is preferred. Use the instance profile from the role created in step 2, create security group that allows traffic on port 22.
- Upload variant call information file (VCF) in gz format to the S3 bucket and copy the path this file
- SSH into the instance launched in step 3 and run following command,
/home/ec2-user/SageMaker/annotate_vcf_duckdb.dist/annotate_vcf_duckdb.bin --vcf s3://path-to-vcfpfile/vcf-file.vcf.gz - This script takes as input a VCF or gVCF and outputs a TSV containing all the variants in that VCF that had clinically and/or pharmaceutically relevant annotations, along with all available columns of annotation data. The file is uploaded to the same S3 path as the vcf file. It takes about 30 minutes to complete this process
- Run following command to generate summary, /home/ec2-user/SageMaker/annotated_vcf_llm_summary.dist/annotated_vcf_llm_summary.bin --tab s3://path-to-vcfpfile/vcf-file.vcf.tsv
- This script uses bedrock Claude Sonnet 3.5 to generate a summary of the findings and outputs in the command prompt.
Support
Vendor support
Help.DoiT.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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