Last Posted: Feb 03, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Renee C Geck, et al. American journal of human genetics 2023 0 0.
The World Health Organization (WHO) recently called for revisiting G6PD variant classification as a priority to implement genetic medicine in low- and middle-income countries. Diverse biobank data, such as that provided by All of Us, enabled the finding of 118 G6PD variants not previously reported in other genetic variation databases, 18 of which were rare missense variants. This highlights the role that large, diverse biobank data can play in the future of variant interpretation.
Utility of long-read sequencing for All of Us
M Mahmoud et a, BIORXIV, January 24, 2023
We compared the performance of traditional short-read sequencing with long-read sequencing in a small cohort of samples from the HapMap project and two AoU control samples representing eight datasets. Our analysis revealed substantial differences in the ability of these technologies to accurately sequence complex medically relevant genes, particularly in terms of gene coverage and pathogenic variant identification. Our results show that HiFi reads produced the most accurate results for both small and large variants.
Research Funding Opportunities to Expand the Use of All of Us Data January 3, 2023
NIH. All of Us News-Events, January 3, 2023
All of Us intends to commit up to $2 million in Fiscal Year 2023 (FY23) to fund up to 12 awards through R03 and R21 funding opportunities. Applications will be required to make use of the rich data that is available through the cloud-based All of Us Researcher Workbench and be relevant across health and disease to maximize the scientific value and accelerate health research for all.