pISSN 2287-979X
eISSN 2288-0011

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Fig. 5.

Overview of steps in the generation of NGS data and analysis.

Abbreviations: NGS, next-generation sequencing; dbSNP, NCBI dbSNP Build 141,; 1000Genomes, 1000 Genomes Project,; EVS, Exome Variant Server,; ExAC, Exome Aggregation Consortium database,; KRDGB, Korean Reference Genome Database,; SIFT,; PolyPhen-2,; MutationTaster,; Human splicing findinger,; MaxEntScan,

Blood Res 2017;52:84~94
© Blood Res