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...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Nature Portfolio
2025-01-01
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| Rangatū: | npj Genomic Medicine |
| Urunga tuihono: | https://doi.org/10.1038/s41525-024-00455-3 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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