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A targeted gene capture next-generation sequencing panel for genetic screening of newborns.

JPMA. The Journal of the Pakistan Medical Association - 1 Oct 2020

Peng Qi, Liu Guojun, Zhu Pengyuan, Wu Chunqiu, He Xiaoguang, Li Wenrui, Rao Chunbao, Li Siping, Lu Xiaomei

Abstract excerpt

OBJECTIVE: The application of next-generation sequencing (NGS) will greatly promote the screening and diagnosis of genetic diseases. This study aimed to implement and validate a targeted NGS panel for genetic screening of over fifty types of genetic disorders in newborns. METHODS: A targeted gene panel consisting of 104 known genes related to genetic diseases with a target size of 347.8 kb was designed. Genes...

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PMID: 33159754
DOI: 10.5455/JPMA.28637

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