Table 2.

Next-generation sequencing (NGS) workflow and data elements.

NGS workflow		Data elements
Sample preparation
	Sample sequencing type	sequencing type, target gene
	Sample information	specimen type, sampling date
Library preparation
	DNA extraction	DNA extraction kit, DNA purity (eg, ODa 260/280, OD 260/230), DNA integrity (eg, DNA median size)
	Library construction	library input amount, library input size, library construction kit
Sequencing
	Sequencing information	sequencing instrument, read length, sequencing direction, running mode
	Running quality	error rate, percent data quality (>Q30)
Data processing
	Data quality	total reads, mean coverage, uniformity, on-target rate, Q30, PRb score
	Sequencing alignment	mapping algorithm, sequencing alignment software
	Variant calling	variant calling software, quality score, allelic read percentage
	Variant filtering and annotation	germline filter criteria, reference database

^aOD: optical density.

^bPR: pass rate.