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All of Us

All of Us Research Reports and Publications Database|Home|PHGKB
Last data update: Feb 03, 2023. (Total: 288 Documents)
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Last Posted: Feb 03, 2023
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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.


news Latest Reports and Publications
Outdoor Physical Activity as a Confounder for Vitamin D Status: A Scoping Review Protocol
Corr PG, et al. MEDRXIV, January 31, 2023

Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort.
Jay G Ronquillo, et al. Journal of medical genetics 2021 0 0. (1) 81-83

Prevalence of Primary Liver Cancer is Affected by Place of Birth in Hispanic People Residing in the United States: All of Us Research Program Report.
Jingjing Yu, et al. The American surgeon 2022 0 0. (10) 2565-2571

The association of anxiety with granuloma annulare: a case-control study of the National Institutes of Health 'All of Us' research programme.
Annika Belzer, et al. The British journal of dermatology 2023 0 0.

The variant catalogue pipeline: A workflow to generate a background variant library from Whole Genome Sequences
Correard S, et al. BIORXIV, October 27, 2022

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Summary

All Records288
Genomics63
Non-Genomics225

Content Types

Original Studies135
Evidence Synthesis 2
Tools/Methods 7
Reviews/Commentaries144

Publication Types

PubMed Records227
Preprints22
Online News/Reports/Publications40

Publication Categories

Making use of All of Us data108
Published by the program37
Mentioning All of Us144

Special Topics

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About

All of Us Reports and Publications Database is an online, continuously updated, searchable database of scientific publications, NIH and CDC resources, and other materials that capture emerging discoveries and applications resulting from the All of Us Research Program with a special focus on genomics, molecular and other precision health applications that may benefit health. Contents include PubMed records via an automated PubMed search algorithm, preprint records, the relevant information from selected websites and media sources selected by experts, and linkages to contents from our curated PHGKB databases.

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