Tag: genomics

The Whole Genome Sequencing (WGS) based genetic diagnostics has revolutionized our ability to identify and understand rare diseases, particularly in pediatric cases where early diagnosis, sometimes within a few hours to days, can dramatically improve patient outcomes. However, WGS needs significant computational resources for analyzing genomic data, which presents a challenge to academic medical centers to balance between flexibility, scalability, speed, and cost. The Department of Human Genetics at Hannover Medical School (MHH), one of Germany’s leading university hospitals, has developed an innovative solution to this challenge by using AWS. Read this post to learn more.

Read this post to learn how Baylor College of Medicine’s Human Genome Sequencing Center migrated its Laboratory Information Management System (LIMS) to a secure, hybrid cloud environment in collaboration with AWS. The migration strengthened the system’s reliability, improved security, lowered costs—all while laying the groundwork for future growth.

This post demonstrates PacBio’s whole genome sequencing variant pipeline implementation on AWS HealthOmics, offering performance optimization insights and evidence-based recommendations for cost-effective deployment at scale based on extensive benchmarking.

When Siriraj Medical Research Center planned their “Nanopore workshop: bacterial genome bioinformatics series” for more than 60 researchers, they faced a common challenge: how to provide consistent, high-performance computing environments for complex genomic analyses. AWS offered the solution through Amazon WorkSpaces, transforming how Siriraj Medical Research Center delivers hands-on bacterial genomics training.

The National Institutes of Health (NIH) has long maintained guidelines governing the responsible management of controlled access human genomic and phenotypic data maintained in NIH-designated data repositories. Recently, the NIH updated these guidelines to align with the NIST SP 800-171 security standard, which defines a comprehensive framework for securing Controlled Unclassified Information (CUI). In this blog post, we will explore the specifics of the updated NIH guidance and outline how Amazon Web Services (AWS) can help customers build a compliant environment to meet these requirements.

Precision medicine is a data-driven approach that considers individual variations in genetics to allow healthcare professionals to more accurately predict, prevent, diagnose, or treat different groups of people. As part of ongoing research to advance genomic research in Singapore, companies like Amazon Web Services (AWS) and Illumina play a pivotal role in genome sequencing and analysis, and providing the tools and technology needed to analyse large-scale genomic datasets to help decode the risk factors for certain Asian-specific chronic diseases.

At Amazon Web Services (AWS), we believe in the power of cloud technology to transform healthcare and improve lives. Because of this, at AWS re:Invent 2024 we announced a commitment of up to $2 million in AWS credits to help four Advanced Research Projects Agency for Health (ARPA-H) Sprint for Women’s Health launchpad awardees address critical unmet challenges in women’s health.

Singapore General Hospital (SGH), SingHealth Office of Academic Informatics (OAI), and Amazon Web Services (AWS) collaborated to develop a cost-effective, scalable cloud infrastructure that enables researchers to perform their own analyses on a centrally secured and compliant cloud platform. AWS HealthOmics offers a suite of services that help bioinformaticians, researchers, and scientists to store, query, analyze, and generate insights from genomic and other biological data. Read this post to learn more about the three primary components of HealthOmics used in the solution.

The National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS DSS), powered by AWS, is a genomic database that provides access to publicly available datasets for Alzheimer’s disease and related neuropathologies. Created to make Alzheimers-genetics knowledge more accessible to researchers, NIAGADS has genomics data on 172,701 samples from 98 datasets and is now 1.3 petabytes (PB) in total size. NIAGADS is creating a system that promotes scientific discovery through data sharing with a large cadre of institutions.

Max Peterson, vice president of worldwide public sector at AWS, shared announcements, news, and stories of how public sector customers are using cloud technology to make the world a better place at the AWS Summit Washington, DC keynote on June 7. He was joined onstage by two special guests who discussed how they’re using AWS to create cutting-edge innovations that are helping them deliver on their missions and solve global challenges. Catch up on the top announcements and highlights from the keynote address.