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

BMC Bioinformatics

Table 1 Five candidate designs to identify one heterozygous variant carrier among 100 individuals

ID of candidate design	# of pools	Data throughput (Gb)^a	Cost
I	10	567.0	$35,051.0
II	20	292.8	$25,518.4
III	30	268.8	$29,246.4
IV	40	272.4	$34,437.2
V	50	265.2	$39,055.6
Sequencing separately^b	100	72.6	$53,847.8

^aAverage value from five simulations. Gb is short for gigabases. Data throughput is the sequencing depth multiplied by the length of the sequencing region. ^bSequencing separately is the strategy when each sample is sequenced independently. All the candidate designs can identify the variant carrier correctly in 95% of the simulations. The costs were estimated at $500 for one library preparation and $5300 for 100 Gb of data.