Genomics Solutions


AWS Genomics Solutions enable customers to dedicate more time to uncovering insights, achieving breakthrough research faster, and bringing lifesaving products to market, all while adhering to data and patient privacy regulations.

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Data Transfer & Storage

AWS enables researchers to manage large-scale data that has outpaced the capacity of on-premises infrastructure. By transferring data to the AWS Cloud, organizations can take advantage of high-throughput data ingestion, cost-effective storage options, secure access, and efficient searching to propel genomics research forward.

SOLUTION BRIEF
Transfer & store genomics data on AWS
Transfer & store genomics data on AWS

AWS offers HIPAA-eligible services that can help life sciences, healthcare, and agriculture organizations optimize their genomics data transfer, future proof their data lifecycle, minimize storage costs, and enable secure collaborations. 

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WHITEPAPER
Genomics data transfer using AWS services
Genomics data transfer using AWS services

Transferring genomics data to the AWS Cloud requires preparation to manage data transfer, storage costs, optimize data transfer performance, and manage the data lifecycle. Learn how to transfer genomics data to the Cloud and establish data access patterns using AWS DataSync and AWS Storage Gateway. 

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WEBINAR
High performance databases
High performance databases

Learn how Genuity Science (previously Genomics Medicine Ireland) used fast, reliable on-premises connectivity to AWS Cloud storage for quick upload of large datasets to shorten the time required for processing, while achieving cost savings. 

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Workflow Automation for Secondary Analysis

AWS offers services for scalable, cost-effective data analysis and simplified orchestration for running and automating parallelizable workflows. Options for automating workflows enable reproducible research or clinical applications, while AWS native, partner (NVIDIA and DRAGEN), and open source solutions (Cromwell and Nextflow) provide flexible options for workflow orchestrators to help scale data analysis.

FEATURED SOLUTION
Genomics Secondary Analysis Using AWS Step Functions and AWS Batch

The Genomics Secondary Analysis Using AWS Step Functions and AWS Batch solution creates a scalable environment in AWS to develop, build, deploy, and run genomics secondary analysis pipelines such as processing raw whole genome sequences into variant calls. This solution includes continuous integration and continuous delivery (CI/CD) using AWS CodeCommit source code repositories and AWS CodePipeline for building and deploying updates to both the genomics workflows and the infrastructure that supports their execution.

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SOLUTION
Nextflow workflow orchestration for genomics analysis on AWS
Nextflow workflow orchestration for genomics analysis on AWS

This Quick Start deploys a genomics analysis environment on the Amazon Web Services (AWS) Cloud using Nextflow to create and orchestrate analysis workflows and AWS Batch to run the workflow processes. The tool enables you to create complex data-intensive workflow pipeline scripts and simplifies the implementation and deployment of genomics analysis workflows in the cloud.

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SOLUTION
Illumina DRAGEN on AWS
Illumina DRAGEN on AWS

This Quick Start deploys Dynamic Read Analysis for GENomics Complete Suite (DRAGEN CS), a data analysis platform by Illumina, on the AWS Cloud. DRAGEN CS enables ultra-rapid analysis of next-generation sequencing (NGS) data, significantly reduces the time required to analyze genomic data, and improves accuracy. It includes bioinformatics pipelines that provide highly optimized algorithms for mapping, aligning, sorting, duplicate marking, and haplotype variant calling.

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SOLUTION
Cromwell on AWS
Cromwell on AWS

Cromwell is a workflow execution engine from Broad Institute that simplifies the orchestration of computing tasks needed for genomics analysis. AWS Batch, a fully managed batch computing service on Amazon Web Services, dynamically provisions the optimal quantity and type of compute resources (e.g., CPU or memory optimized instances) based on the volume and specific resource requirements of the set of batch jobs submitted.

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Data Aggregation & Governance

Access, analyze, and intelligently take action using data from manufacturing equipment and data historians with secure IoT, cloud-based data lakes, and AI/ML. Improve agility and cost-savings by running SAP environments in the cloud, and reduce inefficiencies of running a regulatory validated environment by moving to a continuous compliance model.

FEATURED SOLUTION
Genomics Tertiary Analysis and Data Lakes Using AWS Glue and Amazon Athena

The Genomics Tertiary Analysis and Data Lakes Using AWS Glue and Amazon Athena solution creates a scalable environment in AWS to prepare genomic data for large-scale analysis and perform interactive queries against a genomics data lake. This solution can help IT infrastructure architects, administrators, data scientists, software engineers, and DevOps professionals build, package, and deploy libraries used for genomics data conversion; provision data ingestion pipelines for genomics data preparation and cataloging; and run interactive queries against a genomics data lake.

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SOLUTION
Hail on AWS: Simplified genomic analysis on Amazon EMR
Hail on AWS: Simplified genomic analysis on Amazon EMR

This Quick Start, built in collaboration with Goldfinch Bio, Inc. and Privo IT, helps to simplify building, managing, and interacting with Hail clusters in your Amazon Web Services (AWS) account. Hail is an open-source library built for Apache Spark to provide scalable data exploration and analysis, with a particular emphasis on genomics.

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SOLUTION
HITRUST on AWS
HITRUST on AWS

This Quick Start deploys a model environment on the Amazon Web Services (AWS) Cloud that can help organizations with workloads that fall within the scope of the Health Information Trust Alliance Common Security Framework (HITRUST-CSF). Its architecture maps to certain technical requirements imposed by HITRUST controls.

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SOLUTION
HIPAA on AWS
HIPAA on AWS

This Quick Start deploys a model environment that can help organizations with workloads that fall within the scope of the U.S. Health Insurance Portability and Accountability Act (HIPAA). The Quick Start architecture maps to certain technical requirements imposed by HIPAA regulations.

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Interpretation and Deep Learning for Tertiary Analysis

AWS accelerates analysis of big genomics data by leveraging machine learning and high-performance computing. With AWS, researchers have access to greater computing efficiencies at scale, reproducible data processing, data integration capabilities to pull in multi-modal datasets, and public data for clinical annotation—all within a compliance-ready environment.

FEATURED SOLUTION
Genomics Tertiary Analysis and Machine Learning Using Amazon SageMaker

The Genomics Tertiary Analysis and Machine Learning Using Amazon SageMaker solution creates a platform in the AWS Cloud that can be used to build machine learning models on genomic datasets using AWS managed services. We define tertiary analysis to be the interpretation of genomic variants and assigning meaning to them. This solution provides a broad platform for genomic machine learning in AWS, using variant classification as an example of a scientifically meaningful problem that can be solved using this platform.

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WHITEPAPER
Performing tertiary analysis with ML using Amazon SageMaker
Performing tertiary analysis with ML using Amazon SageMaker

Creating machine learning (ML) training sets and training models, and generating ML predictions using genomics data can be done using AWS Glue and Amazon SageMaker. Access AWS recommendations and a reference architecture for creating training sets, training models, and generating predictions using AWS Glue, Amazon SageMaker, and Amazon SageMaker Jupyter notebooks.

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WHITEPAPER
Genomics data transfer using AWS services
Genomics data transfer using AWS services

Transferring genomics data to the AWS Cloud requires preparation to manage data transfer, storage costs, optimize data transfer performance, and manage the data lifecycle. Learn how to transfer genomics data to the Cloud and establish data access patterns using AWS DataSync and AWS Storage Gateway. 

Read now »

WEBINAR
Machine learning powers immunotherapies
Machine learning powers immunotherapies

Raphael Gottardo from Fred Hutch explains how machine learning and deep neural networks is helping researchers tailor immunotherapies to cancer patients.

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Clinical Genomics

By leveraging the capabilities of the AWS Cloud, organizations can establish a differentiated capability in genomics to advance their applications in precision medicine and patient practice. AWS services enable the use of genomics in the clinic by providing the data capture, compute, and storage capabilities needed to empower the modernized clinical lab to decrease the time to results, all while adhering to the most stringent patient privacy regulations.

FEATURED SOLUTION
FHIR Works on AWS

FHIR Works on AWS is an open source software toolkit that can be used to add capabilities of a FHIR interface to existing healthcare software. It implements a serverless FHIR API that supports the majority of FHIR resource types and operations, and provides a set of architecture patterns to guide customers and partners through the process of designing and building integrations to their existing systems.

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SOLUTION
HIPAA on AWS
HIPAA on AWS

This Quick Start deploys a model environment that can help organizations with workloads that fall within the scope of the U.S. Health Insurance Portability and Accountability Act (HIPAA). The Quick Start architecture maps to certain technical requirements imposed by HIPAA regulations.

Explore the solution »

SOLUTION
HITRUST on AWS
HITRUST on AWS

This Quick Start deploys a model environment on the Amazon Web Services (AWS) Cloud that can help organizations with workloads that fall within the scope of the Health Information Trust Alliance Common Security Framework (HITRUST-CSF). Its architecture maps to certain technical requirements imposed by HITRUST controls.

Explore the solution »

WHITEPAPER
Genomics data transfer using AWS services
Genomics data transfer using AWS services

Transferring genomics data to the AWS Cloud requires preparation to manage data transfer, storage costs, optimize data transfer performance, and manage the data lifecycle. Learn how to transfer genomics data to the Cloud and establish data access patterns using AWS DataSync and AWS Storage Gateway. 

Read now »

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Leading companies in Genomics are already using AWS. Contact our experts and start your own AWS Cloud journey today.
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