Table 1

Mean on-target read depth required for varying SNV detection sensitivity in targeted regions
Total detection sensitivity
80% 90% 95%
Source Het Hom Het Hom Het Hom
HapMap 11.1 ± 0.9 5.3 ± 1.2 17.2 ± 0.9 8.3 ± 1.1 19.7 ± 0.9 9.0 ± 1.1
Kabuki 14.9 ± 1.9 7.6 ± 1.6 27.7 ± 6.1 12.2 ± 2.0 34.5 ± 8.4 18.0 ± 4.9
HW - Nimblegen 15.9 ± 2.5 9.3 ± 1.6 24.5 ± 1.9 9.3 ± 1.6 31.1 ± 2.7 15.9 ± 2.5
HW - Agilent 18.4 ± 1.6 9.5 ± 0.8 36.5 ± 3.5 15.2 ± 2.8 45.6 ± 4.2 21.7 ± 2.8

HW = Human Genetics Unit/Wellcome Trust Sanger Institute.

Meynert et al.

Meynert et al. BMC Bioinformatics 2013 14:195   doi:10.1186/1471-2105-14-195

Open Data