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Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

Background: The absence of standardized approaches for handling genetic test results in electronic health records (EHRs), combined with a lack of diagnostic codes for most rare disorders, hinders accurate and timely identification of patients with rare genetic variants. This impedes access to resear...

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Автори: Olivia J. Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Maria Niarchou, Megan Clarke, Prabhu Shankar, Suma Shankar, Julie S. Cohen, Kendell German, Seth Berger, Angela Sellitto, Inez Y. Oh, Rashi Raizada, Piotr Sliz, Selvin Soby, Mihailo Kaplarevic, Dan Doherty, Andrea Gropman, Constance Smith-Hicks, Jeffrey L. Neul, Virginia Lanzotti, Benjamin Darbro, Qiang Chang, Mustafa Sahin, Maya Chopra
Формат: Artigo
Мова:Inglês
Опубліковано: SAGE Publishing 2025-07-01
Серія:Therapeutic Advances in Rare Disease
Онлайн доступ:https://doi.org/10.1177/26330040251356521
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