LikeSNU-서울대 중앙도서관 빅데이터 지식 플랫폼

Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction

저자

Bonser D.,Malone Jenkins S.,Palmquist R.,Guthery S.,Bonkowsky J.L.,Jaramillo C.

학술지명

Journal of Pediatrics

출판/발행연도

2023

주제

요약

본 연구는 급성 간 기능 장애를 보이는 소아 환자에게 급속 게놈 시퀀싱(rWGS)이 유용성을 평가하기 위해 진행되었습니다. 연구 결과, rWGS는 최대 50%의 환자에게 진단을 제공했으며, 진단 결과는 임상 관리에 영향을 미쳤습니다. 이러한 결과는 소아의 생명을 위협하는 질환, 특히 급성 간 기능 장애에 대한 rWGS의 일상적인 사용을 지지합니다.

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