Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers

BMC Bioinformatics

Table 2 Most cost-effective designs for different scenarios

	Sequencing region (Mb)	Sample size	Frequency of variant	# of pools	Data throughput (Gb)	Cost saving
Haploid sample	5	200	0.5%	20	83.4	85.7%
	5	200	1%	30	124.8	78.6%
	5	200	1.5%	40	128.8	73.4%
Diploid sample	30	200	0.25%	30	669.6	53.4%
	30	100	0.5%	20	292.8	52.6%
	30	100	1%	30	534.6	20.3%

The sequencing region for haploid samples was set as 5 Mb to fit the average length of the bacterial genome. The sequencing region for diploid samples was set as 30 Mb to fit the human exome sequencing.

ISSN: 1471-2105