BLOOD RESEARCH

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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, http://www.ncbi.nlm.nih.gov/projects/SNP/; 1000Genomes, 1000 Genomes Project, http://www.1000genomes.org/; EVS, Exome Variant Server, http://evs.gs.washington.edu/EVS/; ExAC, Exome Aggregation Consortium database, http://exac.broadinstitute.org/; KRDGB, Korean Reference Genome Database, http://152.99.75.168/KRGDB/menuPages/intro.jsp; SIFT, http://sift.jcvi.org/; PolyPhen-2, http://genetics.bwh.harvard.edu/pph2/; MutationTaster, http://www.mutationtaster.org/; Human splicing findinger, http://www.umd.be/HSF/; MaxEntScan, http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html.

Blood Res 2017;52:84~94 https://doi.org/10.5045/br.2017.52.2.84
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