Article

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the <i>All of Us</i> Research Program

2021-04-25

Abstract excerpt

The All of Us Research Program (AoURP, ‘the program’) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the United States. Through repeated engagement of participants, a research resource is being created to enable a variety of future observational and interventional studies. The program has also committed to genomic data generation and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8c43f2b0-1ce7-50ee-bb56-ae4f1b0d9b20
DOI: 10.1101/2021.04.18.21255364

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the <i>All of Us</i> Research ProgramDOI 10.1101/2021.04.18.21255364Read

The U.S. FDA focuses on next-generation sequencing: Draft guidance proposals address potential standards for demonstrating analytical validity and criteria for FDA-recognized genetic variant databases.Semantic proximity Read

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.Semantic proximity Read

Return of genetic testing results in the era of whole-genome sequencingSemantic proximity Read

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseSemantic proximity Read

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing].Semantic proximity Read

Best practices for the interpretation and reporting of clinical whole genome sequencingSemantic proximity Read

Harmonizing variant classification for return of results in the All of Us Research Program.Semantic proximity Read

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.Semantic proximity Read

Genome screening, reporting, and genetic counseling for healthy populations.Semantic proximity Read

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare systemSemantic proximity Read

Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized MedicineSemantic proximity Read

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research CohortSemantic proximity Read