SUN-721 Implementation of Whole Exome Sequencing for Clinical Diagnostics: A Prospective Busan Kyung-Sang Regional Co-Work Team Experience

Purpose: Next Generation Sequencing (NGS) technology is a highthroughput method for genome sequencing which assists clinicians with diagnosis of patients with suspected genetic disorders. This study was to investigate diagnostic yield and clinical utility of whole exome sequencing prospectively in t...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Lee, Jeong Eun, Chung, WooYeong, Lee, BoLyun, Ku, SooHyun, Jeon, Ga Won, Park, JiKyung, Kim, TaeHee, Eom, MiJa, Huh, YoonJung, Park, Jinse, Kwak, MinJung, Kim, JinKyung, Kang, Seok-Jin, Jang, Kyung-mi, Park, Jung-young, Seo, GoHun, Keum, Changwon, Jun, KyungRan, Oh, SeungHwan
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Genetics and Development (including Gene Regulation)
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208550/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1485
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