Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

Abstract The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact. To address this, we enrolled 232 adult probands with undiagnosed conditions, utilizing bioinformatics tools for genetic analysis. Alongside exome and genome sequencing...

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Bibliographic Details
Main Authors:	Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-11-01
Series:	npj Genomic Medicine
Online Access:	https://doi.org/10.1038/s41525-024-00449-1
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