Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Lisa Y. Lau"'
Autor:
Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosi
Externí odkaz:
https://doaj.org/article/a1c862a7efc84dd4bba5497e01e686c0
Autor:
Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li
ObjectivesDevelop a digital phenotyping algorithm (PheIndex) using electronic medical records (EMR) data to identify children aged 0-3 who have been diagnosed with genetic disorders or present with illness with an increased risk for genetic disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e6aca1cbe384c24d03d5316ce90271b
https://doi.org/10.1101/2023.01.27.23285056
https://doi.org/10.1101/2023.01.27.23285056
Autor:
Ryan A. Shewcraft, Mitchell K. Higashi, Yeting Zhang, Jonathan Tyler, Lisa Y. Lau, Bryn D. Webb, Seungwoo Lee, Rajasekar Ramasamudram-Chakravarthi, Teresa A. Cacchione, Alan B. Copperman, Ashley Birch, Marra Francis, Lisong Shi, Lisa Edelmann, Rong Chen, Li Li, Eric Schadt
We characterize the clinical utility and economic benefits of a comprehensive pan-ethnic carrier screening panel that spans 282 monogenic disease conditions in a large, diverse population of 397,540 reproductive health patients. For 142,049 of these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a70241d7175d66a9bf7d6f0a0c5d3e79
https://doi.org/10.1101/2022.09.02.22279503
https://doi.org/10.1101/2022.09.02.22279503