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Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation

Next-generation sequencing (NGS) technology has improved enough to discover mutations associated with genetic diseases. Our study evaluated the feasibility of targeted NGS as a primary screening tool to detect causal variants and subsequently predict genetic diseases. We performed parallel computati...

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Detalles Bibliográficos
Autores principales:	Cho, Yangrae, Lee, Chul-Ho, Jeong, Eun-Goo, Kim, Min-Ho, Hong, Jong Hui, Ko, Younhee, Lee, Bomnun, Yun, Gilly, Kim, Byong Joon, Jung, Jongcheol, Jung, Jongsun, Lee, Jin-Sung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574920/ https://www.ncbi.nlm.nih.gov/pubmed/28851938 http://dx.doi.org/10.1038/s41598-017-09247-5

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