التفاصيل البيبلوغرافية
العنوان:
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
المؤلفون:
Ian B. Stanaway , Dan M. Roden , Divya Kalra , Dustin Key , Debra J. Abrams , David Fasel , Victor Castro , Brad Malin , Berta Almoguera , Beenish Riza , Meckenzie A. Behr , Eric Venner , Christine M. Eng , Joy Jayaseelan , Scott J. Hebbring , Michelle L. McGowan , Steven E. Scherer , Theresa L. Walunas , Mark Bowser , James D. Ralston , Wei-Qi Wei , Liwen Wang , David R. Murdock , Wayne H. Liang , Julia Wynn , Nancy D. Leslie , Laura J. Rasmussen-Torvik , Ming Ta (Michael) Lee , Frank D. Mentch , Lan Zhang , Alanna Kulchak Rahm , Josh F. Peterson , Jodell E. Linder , Joshua C. Smith , Soumitra Sengupta , Brendan J. Keating , Gina Vicente , Andrew Carroll , Nora B. Henrikson , Anne E. Justice , Heather S. Hain , Wen Liu , Andrea H. Ramirez , Matthew S. Lebo , Hana Zouk , Georgia L. Wiesner , Andrea L. Hartzler , Cassandra J. Pisieczko , Catherine M. Rives , Jessica Goehringer , Maegan V. Harden , John Lynch , Chiao-Feng Lin , Peter White , Phil Dunlea , Shawn N. Murphy , Mullai Murugan , Harshad Mahadeshwar , Mark Fleharty , Andrea Foster , Arvind Ramaprasan , Christopher A. Friedrich , Justin H. Gundelach , Hayley Lyon , Niall J. Lennon , Eric W. Klee , David R. Crosslin , Ge Zhang , Rongling Li , Ozan Dikilitas , Xiuping Liu , Christin Hoell , Aniwaa Owusu Obeng , Katherine D. Crew , Lisa M. Castillo , Justin Starren , Jonathan D. Mosley , Carrie L. Blout , Himanshu Sharma , Elizabeth M. McNally , Sarah T. Bland , Megan J. Puckelwartz , Matthew Varugheese , Keith Marsolo , Betty Woolf , Sharon Aufox , Janet L. Williams , Kimberly Walker , Murray H. Brilliant , Birgit Funke , Laura Allison Woods , Marylyn D. Ritchie , Brittany City , Todd Lingren , Hila Milo Rasouly , Lawrence J. Babb , Alex Fedotov , Robert C. Onofrio , Margaret Harr , Suzette J. Bielinski , Michael W. Wilson , Shubhabrata Mukherjee , Robert R. Freimuth , Chet Graham , Todd L. Edwards , Quinn S. Wells , Marc S. Williams , Jordan W. Smoller , Wendy K. Chung , Avni Santani , Paul K. Crane , George Hripcsak , QiPing Feng , Ali G. Gharavi , Yizhao Ni , Iftikhar J. Kullo , Michael Wagner , Philip E. Lammers , Michael J. Dinsmore , Thomas N. Person , Victoria Yi , Samuel E. Adunyah , Tim DeSmet , Eric B. Larson , Elizabeth Hynes , David C. Kochan , Eimear E. Kenny , Magalie S. Leduc , Lisa Mahanta , David Carrell , Paul S. Appelbaum , Viktoriya Korchina , Beth L. Cobb , Lynn Petukhova , Jessica De la Cruz , Patrick M. A. Sleiman , Stuart A. Scott , Tsung-Jung Wu , Gail P. Jarvik , Erwin P. Bottinger , Ken Wiley , Josh C. Denny , Melissa A. Basford , Samuel J. Aronson , David L. Veenstra , Yaping Yang , Kayla Marie Howell , John J. Connolly , Jessica Su , Yoonjung Yoonie Joo , Miguel Verbitsky , Sean M. Vargas , Cong Liu , Barbara Benoit , Andrew Hershey , Richard A. Gibbs , Cynthia A. Prows , Hana Bangash , Wendy Brodeur , Gauthami Chandanavelli , Sara L. Van Driest , Kurt D. Christensen , Elizabeth J. Bhoj , Vivian S. Gainer , Adam S. Gordon , Robert C. Green , Hakon Hakonarson , Krzysztof Kiryluk , Elisabeth A. Rosenthal , Rajbir Singh , James G. Linneman , Harrison Brand , Theodore Chiang , Sheila Dodge , Ingrid A. Holm , M. Geoffrey Hayes , Yunyun Jiang , Ning Shang , Samantha Baxter , Noralane M. Lindor , Kathleen A. Leppig , Teri A. Manolio , Sara E. Kalla , Pedro J. Caraballo , Ritika Raj , Aaron Scrol , Jyoti G. Dayal , Richard R. Sharp , Christie Kovar , Soumya Raychaudhuri , Sunghwan Sohn , Emily Kudalkar , Maddalena Marasa , Stacey Gabriel , Dan Schaid , Ladia Albertson-Junkans , Rex L. Chisholm , Maureen E. Smith , Donna M. Muzny , Casey Overby Taylor , Jianhong Hu , Elizabeth W. Karlson , Lisa Bastarache , Darren C. Ames , Joseph T. Glessner , Leora Witkowski , Siddharth Pratap , Qiaoyan Wang , Melissa A. Kelly , Adithya Balasubramanian , Kara Slowik , Terrie Kitchner , Barbara J. Klanderman , Shawn Denson , Mary Stroud , Alyssa Macbeth , Melanie F. Myers , Jesse Muniz , Kasia Tolwinski , Scott T. Weiss , Chunhua Weng , Stephanie M. Fullerton , John B. Harley , Christopher G. Chute , Heidi L. Rehm , Sheethal Jose , Andrew M. Glazer , Navya Shilpa Josyula , Kenneth M. Borthwick , Thomas E. Mullen , Mariza de Andrade , Leah C. Kottyan , Luke V. Rasmussen , James Meldrim , Bahram Namjou
المصدر:
The American Journal of Human Genetics . 105:588-605
بيانات النشر:
Elsevier BV, 2019.
سنة النشر:
2019
مصطلحات موضوعية:
0301 basic medicine , Standardization , Test data generation , business.industry , Computer science , Sequence Analysis, DNA , 030105 genetics & heredity , Precision medicine , Data science , Clinical decision support system , Biobank , Article , 3. Good health , Data sharing , 03 medical and health sciences , 030104 developmental biology , Genetics , Humans , Genetic Testing , Prospective Studies , Sample collection , Personalized medicine , Precision Medicine , business , Genetics (clinical)
الوصف:
The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture panels targeting 109 genes were used for testing of DNA and sample collection, data generation, interpretation, reporting, delivery, and storage were each harmonized. A compliant and secure network enabled ongoing review and reconciliation of clinical interpretations, while maintaining communication and data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.
تدمد:
0002-9297
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700137b84d54aec434b050a510761679Test https://doi.org/10.1016/j.ajhg.2019.07.018Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....700137b84d54aec434b050a510761679
قاعدة البيانات:
OpenAIRE
