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. 2019 Feb 12;10:49. doi: 10.3389/fgene.2019.00049

Table 2.

Comparison of various NGS technique and primary analysis tools.

NGS techniques Study aim(s) Data size per sample Tool(s) used Reference
WGS De novo assembly ~90 GB Velvet, SOAPdenovo Zerbino and Birney, 2008; Luo et al., 2012
WES Protein-coding variant identification ~5–6 GB Edico DRAGEN, GATK, Samtools Li et al., 2009; McKenna et al., 2010; Edico Genome, 2018
RNA-seq Gene expression, novel isoform discovery ~3–4 GB DESeq, Cufflinks Anders and Huber, 2010; Trapnell et al., 2012
ChIP-seq Protein–DNA interaction study, i.e., identification of histone marks and transcription factor binding sites ~1–2 GB QuEST, MACS Valouev et al., 2008; Liu, 2014
Bisulfite-seq DNA methylation sites identification ~1–2 GB BS Seeker Chen et al., 2010