Q: What does the Genomics Tertiary Analysis and Machine Learning Using Amazon SageMaker solution do?
A: The solution creates a scalable environment in AWS, setting up a platform that allows users to build machine learning models on genomic datasets using AWS managed services. You can build and deploy updates to both the genomics workflows and the infrastructure that supports their execution.
Q: Can I modify the solution to run my own genomics analysis?
A: Yes, you can modify the solution to fit your particular needs. For example, you can add new genomics model generation pipelines to the solution. Each change is tracked by the CI/CD pipeline, facilitating change control management, rollbacks, and auditing.
Q: What bioinformatics tools are used for data preparation?
A: This solution uses AWS Glue jobs to transforms the ClinVar dataset with variant effect predictors. These predictors are added into ClinVar datasets and include features that are used for model training. In addition, an Amazon SageMaker notebook instance is provided that demonstrates how to use AWS Glue and Amazon SageMaker Autopilot to create a machine learning model generation pipeline.
Q: What bioinformatics datasets are used in the solution?
A: This solution includes ClinVar, a publicly available dataset that aggregates information about genomic variation and its relationship to human health. In addition, Ensemble Variant Effect Predictor (VEP) is used to determine the effect of your variants (Single Nucleotide Polymorphisms (SNPs), insertions, deletions, Copy Number Variations (CNVs), or structural variants) on genes, transcripts, protein sequence, and regulatory regions.
Q: Can I deploy the solution in any AWS Region?
A: No, this solution uses the AWS CodePipeline service, which is currently available in specific AWS Regions only. Therefore, you must launch this solution in an AWS Region where this service is available. For the most current availability by Region, see AWS service offerings by Region.
Training and Certification
AWS Training and Certification builds your competence, confidence, and credibility through practical cloud skills that help you innovate and build your future. Learn more »
Introduction to AWS CodeCommit
This course introduces you to AWS CodeCommit – the fully-managed source control service that makes it easy for you to host secure and highly scalable private Git repositories. Throughout this course, you will learn more about the service’s features and benefits and how best to use CodeCommit for your own development needs. We also demonstrate how to create a new repository.
Introduction to AWS CodeBuild
In this introductory course, we discuss what AWS CodeBuild is and how it works and review some common use cases and best practices.
AWS Certified Solutions Architect – Associate
This exam validates your ability to effectively demonstrate knowledge of how to architect and deploy secure and robust applications on AWS technologies.
The AWS Partner Network (APN) is focused on helping partners build successful AWS-based businesses to drive superb solutions and customer experiences. APN Partners are focused on customer success, helping you take full advantage of all the business benefits that AWS has to offer. With their deep expertise on AWS, APN Partners are uniquely positioned to help your company at any stage of your Cloud Adoption Journey and to help you solve some of your most complex problems.