Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

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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Main Authors: 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
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00455-3
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