scholarly journals Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing

2014 ◽  
Vol 164 (9) ◽  
pp. 2153-2160 ◽  
Author(s):  
Joon-Ho Yu ◽  
Julia Crouch ◽  
Seema M. Jamal ◽  
Michael J. Bamshad ◽  
Holly K. Tabor
Keyword(s):  
African American ◽  
Focus Group ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Return Of Results ◽  
Whole Genome

scholarly journals Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

2013 ◽  
Vol 161 (5) ◽  
pp. 1064-1072 ◽  
Author(s):  
Joon-Ho Yu ◽  
Julia Crouch ◽  
Seema M. Jamal ◽  
Holly K. Tabor ◽  
Michael J. Bamshad
Keyword(s):  
African Americans ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Return Of Results ◽  
Whole Genome

[P3-094]: RESOURCE OF MULTIPLEX AFRICAN AMERICAN FAMILIES FOR WHOLE-GENOME SEQUENCING

2017 ◽  
Vol 13 (7S_Part_20) ◽  
pp. P970-P970
Author(s):  
Michael L. Cuccaro ◽  
Christiane Reitz ◽  
Gary W. Beecham ◽  
Holly N. Cukier ◽  
Katrina Celis ◽  
...  
Keyword(s):  
African American ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
African American Families ◽  
Whole Genome ◽  
American Families

scholarly journals Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

2021 ◽  
Author(s):  
E Venner ◽  
D Muzny ◽  
JD Smith ◽  
K Walker ◽  
CL Neben ◽  
...  
Keyword(s):  
United States ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Research Program ◽  
Disease Risk ◽  
The United States ◽  
Return Of Results ◽  
Whole Genome ◽  
Data Generation ◽  
Health Related

AbstractThe 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 returning important health-related information to participants. To do so, whole genome sequencing (WGS), variant calling processes, data interpretation, and return-of-results procedures had to be created and receive an Investigational Device Exemption (IDE) from the United States Food and Drug Administration (FDA). The performance of the entire workflow was assessed through the largest known cross-center, WGS-based, validation activity that was refined iteratively through interactions with the FDA over many months. The accuracy and precision of the WGS process as a device for the return of certain health-related genomic results was determined to be sufficient, and an IDE was granted. We present here both the process of navigating the IDE application process with the FDA and the results of the validation study as a guide to future projects which may need to follow a similar path. Future supplements to the IDE will be submitted to support additional variant classes, sample types, and any expansion to the reportable regions.

scholarly journals Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility

PLoS ONE ◽  
2017 ◽  
Vol 12 (2) ◽  
pp. e0170977 ◽  
Author(s):  
Jihoon Kim ◽  
Chisato Shimizu ◽  
Stephen F. Kingsmore ◽  
Narayanan Veeraraghavan ◽  
Eric Levy ◽  
...  
Keyword(s):  
African American ◽  
Kawasaki Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Disease Susceptibility ◽  
African American Family ◽  
Whole Genome ◽  
American Family ◽  
Toll Like Receptor

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018 ◽  
Author(s):  
Mark Stevenson ◽  
Alistair T Pagnamenta ◽  
Heather G Mack ◽  
Judith A Savige ◽  
Kate E Lines ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Complex Disorders ◽  
Tubular Disorders ◽  
Renal Tubular Disorders ◽  
Renal Tubular
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