Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis

Table 1 Effect of sequential filtering by SERVIC⁴E on variant output

	Dataset 1		Dataset 2
	Illumina	Srfim	Illumina
Number of variant-pools after filtering
Prior to cluster analysis	1,656	1,056	7,272
After cluster analysis	929	905	5,123
After average quality filtering	437	342	422
After tailcurve filtering	341	340	412
After error-modeling	333	334	378

Reported values indicate the total number of variant positions (across all pools) that remain after each filtering step. Dataset 1: sequencing output of GRIP2 exons in a first cohort of 480 samples. Dataset 2: sequencing output of GRIP2 exons in a second independent cohort of 480 samples.

ISSN: 1474-760X