Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Matthew S Lebo"'
Autor:
Diana Mandelker, Roy E Lee, Mia Y Platt, Gregory Riedlinger, Andrew Quinn, Luigi K. F. Rao, Veronica E Klepeis, Michael Mahowald, William J Lane, Bruce A Beckwith, Jason M Baron, David S McClintock, Frank C Kuo, Matthew S Lebo, John R Gilbertson
Publikováno v:
Journal of Pathology Informatics, Vol 5, Iss 1, Pp 11-11 (2014)
Background: Pathology informatics is both emerging as a distinct subspecialty and simultaneously becoming deeply integrated within the breadth of pathology practice. As specialists, pathology informaticians need a broad skill set, including aptitude
Externí odkaz:
https://doaj.org/article/37b0bdc40b8a4a778c2845e0f2bd6ca2
Autor:
Anna C. F. Lewis, Emma F. Perez, Anya E. R. Prince, Hana R. Flaxman, Lizbeth Gomez, Deanna G. Brockman, Paulette D. Chandler, Benjamin J. Kerman, Matthew S. Lebo, Jordan W. Smoller, Scott T. Weiss, Carrie L. Blout Zawatksy, James B. Meigs, Robert C. Green, Jason L. Vassy, Elizabeth W. Karlson
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-16 (2022)
Abstract Background Polygenic risk scores (PRS), which offer information about genomic risk for common diseases, have been proposed for clinical implementation. The ways in which PRS information may influence a patient’s health trajectory depend on
Externí odkaz:
https://doaj.org/article/b19f80c5d7664fe791e51eb803730865
Autor:
Tian Ge, Marguerite R. Irvin, Amit Patki, Vinodh Srinivasasainagendra, Yen-Feng Lin, Hemant K. Tiwari, Nicole D. Armstrong, Barbara Benoit, Chia-Yen Chen, Karmel W. Choi, James J. Cimino, Brittney H. Davis, Ozan Dikilitas, Bethany Etheridge, Yen-Chen Anne Feng, Vivian Gainer, Hailiang Huang, Gail P. Jarvik, Christopher Kachulis, Eimear E. Kenny, Atlas Khan, Krzysztof Kiryluk, Leah Kottyan, Iftikhar J. Kullo, Christoph Lange, Niall Lennon, Aaron Leong, Edyta Malolepsza, Ayme D. Miles, Shawn Murphy, Bahram Namjou, Renuka Narayan, Mark J. O’Connor, Jennifer A. Pacheco, Emma Perez, Laura J. Rasmussen-Torvik, Elisabeth A. Rosenthal, Daniel Schaid, Maria Stamou, Miriam S. Udler, Wei-Qi Wei, Scott T. Weiss, Maggie C. Y. Ng, Jordan W. Smoller, Matthew S. Lebo, James B. Meigs, Nita A. Limdi, Elizabeth W. Karlson
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-16 (2022)
Abstract Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and environmental risk factors that disproportionately afflicts communities of color. Leveraging existing large-scale genome-wide association studies (GWAS), poly
Externí odkaz:
https://doaj.org/article/e049f828882147afa27dd2a692f0bc18
Autor:
Yiyi Zhang, Jacqueline S. Dron, Brandon K. Bellows, Amit V. Khera, Junxiu Liu, Pallavi P. Balte, Elizabeth C. Oelsner, Sami Samir Amr, Matthew S. Lebo, Anna Nagy, Gina M. Peloso, Pradeep Natarajan, Jerome I. Rotter, Cristen Willer, Eric Boerwinkle, Christie M. Ballantyne, Pamela L. Lutsey, Myriam Fornage, Donald M. Lloyd-Jones, Lifang Hou, Bruce M. Psaty, Joshua C. Bis, James S. Floyd, Ramachandran S. Vasan, Nancy L. Heard-Costa, April P. Carson, Michael E. Hall, Stephen S. Rich, Xiuqing Guo, Dhruv S. Kazi, Sarah D. de Ferranti, Andrew E. Moran
Publikováno v:
Circulation. 147:1556-1559
Autor:
Limin Hao, Peter Kraft, Gabriel F. Berriz, Elizabeth D. Hynes, Christopher Koch, Prathik Korategere V Kumar, Shruti S. Parpattedar, Marcie Steeves, Wanfeng Yu, Ashley A. Antwi, Charles A. Brunette, Morgan Danowski, Manish K. Gala, Robert C. Green, Natalie E. Jones, Anna C. F. Lewis, Steven A. Lubitz, Pradeep Natarajan, Jason L. Vassy, Matthew S. Lebo
Publikováno v:
Nature Medicine. 28:1006-1013
Implementation of polygenic risk scores (PRS) may improve disease prevention and management but poses several challenges: the construction of clinically valid assays, interpretation for individual patients, and the development of clinical workflows a
Autor:
Matthew S. Lebo, Christopher Koch, Lisa Mahanta, Scott T. Weiss, John B. Harley, Gail P. Jarvik, Prathik K. Vijay Kumar, Melanie F. Myers, Kathleen A. Leppig, Elizabeth W. Karlson, Cynthia A. Prows, Marc S. Williams, Andrea M. Oza, Heidi L. Rehm, Hana Zouk, Megan H. Hawley, Wanfeng Yu
Publikováno v:
Genet Med
The clinical genomics knowledgebase is dynamic with variant classifications changing as newly identified cases, additional population data, and other evidence become available. This is a challenge for the clinical laboratory because of limited resour
Autor:
Venner Eric, Victoria Yi, David Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo, Shoudong Li, Qingchang Meng, Xia Tian, Mullai Murugan, Michelle Cohen, Christie Kovar, Wei-Qi Wei, Wendy K. Chung, Chunhua Weng, Georgia L. Wiesner, Gail P. Jarvik, Donna Muzny, Richard A. Gibbs, Debra Abrams, Samuel E. Adunyah, Ladia Albertson-Junkans, Berta Almoguera, Darren C. Ames, Paul Appelbaum, Samuel Aronson, Sharon Aufox, Lawrence J. Babb, Adithya Balasubramanian, Hana Bangash, Melissa Basford, Lisa Bastarache, Samantha Baxter, Meckenzie Behr, Barbara Benoit, Elizabeth Bhoj, Suzette J. Bielinski, Sarah T. Bland, Carrie Blout, Kenneth Borthwick, Erwin P. Bottinger, Mark Bowser, Harrison Brand, Murray Brilliant, Wendy Brodeur, Pedro Caraballo, David Carrell, Andrew Carroll, Lisa Castillo, Victor Castro, Gauthami Chandanavelli, Theodore Chiang, Rex L. Chisholm, Kurt D. Christensen, Wendy Chung, Christopher G. Chute, Brittany City, Beth L. Cobb, John J. Connolly, Paul Crane, Katherine Crew, David R. Crosslin, Jyoti Dayal, Mariza De Andrade, Jessica De la Cruz, Josh C. Denny, Shawn Denson, Tim DeSmet, Ozan Dikilitas, Michael J. Dinsmore, Sheila Dodge, Phil Dunlea, Todd L. Edwards, Christine M. Eng, David Fasel, Alex Fedotov, Qiping Feng, Mark Fleharty, Andrea Foster, Robert Freimuth, Christopher Friedrich, Stephanie M. Fullerton, Birgit Funke, Stacey Gabriel, Vivian Gainer, Ali Gharavi, Andrew M. Glazer, Joseph T. Glessner, Jessica Goehringer, Adam S. Gordon, Chet Graham, Robert C. Green, Justin H. Gundelach, Heather S. Hain, Hakon Hakonarson, Maegan V. Harden, John Harley, Margaret Harr, Andrea Hartzler, M. Geoffrey Hayes, Scott Hebbring, Nora Henrikson, Andrew Hershey, Christin Hoell, Ingrid Holm, Kayla M. Howell, George Hripcsak, Jianhong Hu, Elizabeth Duffy Hynes, Joy C. Jayaseelan, Yunyun Jiang, Yoonjung Yoonie Joo, Sheethal Jose, Navya Shilpa Josyula, Anne E. Justice, Divya Kalra, Elizabeth W. Karlson, Brendan J. Keating, Melissa A. Kelly, Eimear E. Kenny, Dustin Key, Krzysztof Kiryluk, Terrie Kitchner, Barbara Klanderman, Eric Klee, David C. Kochan, Viktoriya Korchina, Leah Kottyan, Emily Kudalkar, Alanna Kulchak Rahm, Iftikhar J. Kullo, Philip Lammers, Eric B. Larson, Matthew S. Lebo, Magalie Leduc, Ming Ta (Michael) Lee, Niall J. Lennon, Kathleen A. Leppig, Nancy D. Leslie, Rongling Li, Wayne H. Liang, Chiao-Feng Lin, Jodell E. Linder, Noralane M. Lindor, Todd Lingren, James G. Linneman, Cong Liu, Wen Liu, Xiuping Liu, John Lynch, Hayley Lyon, Alyssa Macbeth, Harshad Mahadeshwar, Lisa Mahanta, Bradley Malin, Teri Manolio, Maddalena Marasa, Keith Marsolo, Michelle L. McGowan, Elizabeth McNally, Jim Meldrim, Frank Mentch, Hila Milo Rasouly, Jonathan Mosley, Shubhabrata Mukherjee, Thomas E. Mullen, Jesse Muniz, David R. Murdock, Shawn Murphy, Melanie F. Myers, Bahram Namjou, Yizhao Ni, Robert C. Onofrio, Aniwaa Owusu Obeng, Thomas N. Person, Josh F. Peterson, Lynn Petukhova, Cassandra J. Pisieczko, Siddharth Pratap, Cynthia A. Prows, Megan J. Puckelwartz, Ritika Raj, James D. Ralston, Arvind Ramaprasan, Andrea Ramirez, Luke Rasmussen, Laura Rasmussen-Torvik, Soumya Raychaudhuri, Heidi L. Rehm, Marylyn D. Ritchie, Catherine Rives, Beenish Riza, Dan M. Roden, Elisabeth A. Rosenthal, Avni Santani, Schaid Dan, Steven Scherer, Stuart Scott, Aaron Scrol, Soumitra Sengupta, Ning Shang, Himanshu Sharma, Richard R. Sharp, Rajbir Singh, Patrick M.A. Sleiman, Kara Slowik, Joshua C. Smith, Maureen E. Smith, Duane T. Smoot, Jordan W. Smoller, Sunghwan Sohn, Ian B. Stanaway, Justin Starren, Mary Stroud, Jessica Su, Casey Overby Taylor, Kasia Tolwinski, Sara L. Van Driest, Sean M. Vargas, Matthew Varugheese, David Veenstra, Eric Venner, Miguel Verbitsky, Gina Vicente, Michael Wagner, Kimberly Walker, Theresa Walunas, Liwen Wang, Qiaoyan Wang, Scott T. Weiss, Quinn S. Wells, Peter S. White, Ken L. Wiley, Janet L. Williams, Marc S. Williams, Michael W. Wilson, Leora Witkowski, Laura Allison Woods, Betty Woolf, Julia Wynn, Yaping Yang, Ge Zhang, Lan Zhang, Hana Zouk
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genomic medicine holds great promise for improving health care, but integrating searchable and actionable genetic data into electronic health records (EHRs) remains a challenge. Here we describe Neptune, a system for managing the interaction between
Autor:
Christine Y. Lu, Krishna G. Aragam, Candace Patterson, Pradeep Natarajan, Holly Head, Caroline Harley, Amit Khera, Miriam S. Udler, Deanna Brockman, Courtney Elizabeth Leonard, Heidi L. Rehm, Kimberly O’Brien, Lisa Mahanta, Matthew S. Lebo, Sekar Kathiresan, Renee C. Pelletier, Christina Austin-Tse
Publikováno v:
Genet Med
Purpose To evaluate the diagnostic yield and clinical relevance of clinical genome sequencing (cGS) as a first genetic test for patients with suspected monogenic disorders. Methods We conducted a prospective randomized study with pediatric and adult
Autor:
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949
https://doi.org/10.1101/2022.09.21.22279949
Autor:
Natalie T. Boutin, Samantha B. Schecter, Emma F. Perez, Natasha S. Tchamitchian, Xander R. Cerretani, Vivian S. Gainer, Matthew S. Lebo, Lisa M. Mahanta, Elizabeth W. Karlson, Jordan W. Smoller
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 8; Pages: 1323
The Mass General Brigham Biobank (formerly Partners HealthCare Biobank) is a large repository of biospecimens and data linked to extensive electronic health record data and survey data. Its objective is to support and enable translational research fo