دورية أكاديمية
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
| العنوان: | Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population |
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| المؤلفون: | Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton |
| المصدر: | npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023) |
| بيانات النشر: | Nature Portfolio, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Genetics |
| مصطلحات موضوعية: | Medicine, Genetics, QH426-470 |
| الوصف: | Abstract The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or neurocognitive disabilities and prenatal patients had one or more structural anomalies, disorders of fetal growth, or fetal effusions. URM and US patients were prioritized for enrollment and underwent ES at a single academic center. We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P = 0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status. Our results demonstrate a similar diagnostic yield of ES between prenatal and pediatric URM/US patients and non-URM/US patients for positive and inconclusive results. These data support the use of ES to identify clinically relevant variants in patients from diverse populations. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2056-7944 |
| العلاقة: | https://doaj.org/toc/2056-7944Test |
| DOI: | 10.1038/s41525-023-00353-0 |
| الوصول الحر: | https://doaj.org/article/c19fcc01932947f88e053f92d2e0e021Test |
| رقم الانضمام: | edsdoj.19fcc01932947f88e053f92d2e0e021 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20567944 |
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| DOI: | 10.1038/s41525-023-00353-0 |