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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208550/
http://dx.doi.org/10.1210/jendso/bvaa046.1485

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