An algorithm to identify patients aged 0 –3 with rare genetic disorders

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, inaccu...

Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: 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 and Li Li Tags: Research Source Type: research