A web-oriented software for the optimization of pooled experiments in NGS for detection of rare mutations

BMC Research Notes

Table 1 Comparison of the performance of the four algorithms implemented in OPENDoRM

	NoReplica	OptReplica	Transposition	DiagWalks
Num Patients	5	5	6	6
Num pools	13	22	22	23
Num Sanger test	1580	0	0	20
Expected patient	64	64	56	25
Total cost (€)	2640	22,000	22,000	23,160
Num patients	4	5	6	6
Num pools	32	22	22	23
Num Sanger test	3584	0	0	20
Expected patient	128	128	113	49
Num patients	3	20	20	20
Num pools	667	200	200	200
Num Sanger test	119,960	0	0	160
Expected patient	2000	2000	1901	361
Total cost (€)	1,626,680	200,000	200,000	201,280

Case study 1: The input parameters are: number of patients = 64; max Poolsize = 6; number of mutations to detect = 5; cost of a single Sanger test = €8; cost of a single pool for NGS = €1000. Case study 2: The input parameters are: number of patients = 128; max Poolsize = 8; number of mutations to detect = 7; cost of a single Sanger test = €10; cost of a single pool for NGS = €1000. Case study 3: The input parameters are: number of patients = 2000; max Poolsize = 20; number of mutations to detect = 20; cost of a single Sanger test = €8; cost of a single pool for NGS = €1000

ISSN: 1756-0500