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

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 the diagnos...

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Veröffentlicht in:	Npj genomic medicine 2025-01, Vol.10 (1), p.6-9, Article 6
Hauptverfasser:	Han, Heonjong, Seo, Go Hun, Hyun, Seong-In, Kwon, Kisang, Ryu, Seung Woo, Khang, Rin, Lee, Eugene, Kim, JiHye, Song, Yongjun, Jeong, Won Chan, Han, Joohyun, Kim, Dong-wook, Yang, Soyeon, Lee, Sohyun, Jang, Sohyun, Lee, Jungsul, Lee, Hane
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516 631/208/212/2301 631/208/2489/1512 692/4017 Age Bioinformatics Biomedical and Life Sciences Biomedicine Chi-square test Childhood Consanguinity Disease Ethnicity Gene Function Gene Therapy Genetic disorders Genetic diversity Human Genetics Internal Medicine Neurodevelopmental disorders Whole genome sequencing
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