VIDEO: Unraveling Challenges and Creating Solutions in Exome Sequencing
Next-Generation Sequencing (NGS) has revolutionized both our understanding and utility of genomics, marked by a surge in direct-to-consumer genomics and transformative therapeutic advancements. However, as applications and method developments increase, more gaps are revealed in the NGS landscape, spanning: 1) financial constraints, 2) time considerations, 3) informatics complexities, 4) data management, and 5) ethics/security vulnerabilities.
Sequencing unreliability and non-reproducibility, underscored by a lack of interpretation tools, compounds the challenges of integrating sequencing data into clinical healthcare settings. Additionally, the intricacies of data governance and ethical obligations further interlace with these challenges. Adhering to GDPR standards, ethical concerns cast a spotlight on the delicate intersection between scientific advancement and the imperative need for data protection. How can we do better?
We discuss these profound challenges and strategic solutions with a focus on exome sequencing data, from the perspective of a specialized NGS service provider. We cover how harnessing optimized digital innovations workflows, from enhanced consistency in bioinformatics pipelines and streamlined data management to blockchain tokenizing and GPT, culminates in tangible enhancements to efficiency tailored to specific exome goals.
Quantifiable progress is shown by efficiency gains: cost reductions of 90%, expedited turnaround times reduced by 33%, and improved workflow reproducibility. From this presentation, you will gain insights into the transformative influence of software-driven strategies in exome sequencing.
Co-Founder & CEO
Hannah Dose is the CEO and Co-Founder of AUGenomics, a premier next-generation sequencing service provider. At the University of Hawai'i, Hannah employed CRISPR/Cas9 technology to combat plant diseases and transmission. Through her work developing affordable COVID-19 testing at La Jolla Institute, she recognized how access to molecular technology needed to be improved. At 27, as a young entrepreneur with a vision of democratizing scientific progress, she is committed to breaking down barriers to innovation and making molecular tools more accessible for all.