scholarly journals Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2016 ◽  
Vol 98 (6) ◽  
pp. 1067-1076 ◽  
Author(s):  
Laura M. Amendola ◽  
Gail P. Jarvik ◽  
Michael C. Leo ◽  
Heather M. McLaughlin ◽  
Yassmine Akkari ◽  
...  
2016 ◽  
Vol 99 (1) ◽  
pp. 247 ◽  
Author(s):  
Laura M. Amendola ◽  
Gail P. Jarvik ◽  
Michael C. Leo ◽  
Heather M. McLaughlin ◽  
Yassmine Akkari ◽  
...  

2019 ◽  
Vol 16 (4) ◽  
pp. 325-333 ◽  
Author(s):  
Joon-Ho Yu ◽  
Paul S Appelbaum ◽  
Kyle B Brothers ◽  
Steven Joffe ◽  
Tia L Kauffman ◽  
...  

2016 ◽  
Vol 99 (1) ◽  
pp. 246 ◽  
Author(s):  
Robert C. Green ◽  
Katrina A.B. Goddard ◽  
Gail P. Jarvik ◽  
Laura M. Amendola ◽  
Paul S. Appelbaum ◽  
...  

2016 ◽  
Vol 98 (6) ◽  
pp. 1051-1066 ◽  
Author(s):  
Robert C. Green ◽  
Katrina A.B. Goddard ◽  
Gail P. Jarvik ◽  
Laura M. Amendola ◽  
Paul S. Appelbaum ◽  
...  

2021 ◽  
Vol 18 (5) ◽  
pp. 441-454
Author(s):  
Nangel M Lindberg ◽  
Amanda M Gutierrez ◽  
Kathleen F Mittendorf ◽  
Michelle A Ramos ◽  
Beatriz Anguiano ◽  
...  

Aim: To increase Spanish speakers' representation in genomics research, accessible study materials on genetic topics must be made available in Spanish. Materials & methods: The Clinical Sequencing Evidence-Generating Research consortium is evaluating genome sequencing for underserved populations. All sites needed Spanish translation of recruitment materials, surveys and return of results. Results: We describe our process for translating site-specific materials, as well as shared measures across sites, to inform future efforts to engage Spanish speakers in research. Conclusion: In translating and adapting study materials for roughly 1000 Spanish speakers across the USA, and harmonizing translated measures across diverse sites, we overcame numerous challenges. Translation should be performed by professionals. Studies must allocate sufficient time, effort and budget to translate and adapt participant materials.


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