Loss-of-function variants in FSIP1 identified by targeted sequencing are associated with one particular subtype of mucosal melanoma

Mengyun Chen,Yaxing Wu,Wenjing Li,Xiaowei Zhang,Lei Chen,Xiaodong Zheng,Xianbo Zuo,Fusheng Zhou,Yanyan Hong,Huaidong Cheng,Mingjun Zhang, Zhengdong Chen,Qiang Wu,Xuejun Zhang,Bo Zhang

Gene（2020）

引用 4|浏览53

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摘要

•This is the first gene-level loss-of-function enrichment analysis for mucosal melanoma in the Han Chinese population.•An oral mucosal melanoma-specific susceptibility gene FSIP1 was confirmed in a Chinese Han population.•This study focused on the gene level via enrichment analysis.

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关键词

LOF,NGS,LM-PCR,BWA,SNVs,InDels,ExAC,VCF,SKAT

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