Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing th...
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| Asıl Yazarlar: | , , , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Portfolio
2025-01-01
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| Seri Bilgileri: | npj Genomic Medicine |
| Online Erişim: | https://doi.org/10.1038/s41525-024-00455-3 |
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