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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...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, JiHye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dong-wook Kim, Soyeon Yang, Sohyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Nature Portfolio 2025-01-01
Rangatū:npj Genomic Medicine
Urunga tuihono:https://doi.org/10.1038/s41525-024-00455-3
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