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Table 9 Comparing SNVs in 6 HA algorithms with positions in known haplotypes

From: Pairwise comparative analysis of six haplotype assembly methods based on users’ experience

HA methods

hg19.DP1

overlap

hg19.DP15

overlap

hg19.DP30

overlap

HapCUT2

115,215

43,868 (38.07%)

96,357

35,930 (37.29%)

18,824

3517 (18.68%)

MixSIH

115,790

44,210 (38.18%)

96,818

36,211 (37.40%)

18,885

3542 (18.76%)

PEATH

115,813

44,223 (38.18%)

96,835

36,225 (37.41%)

18,887

3542 (18.75%)

WhatsHap

178,523

97,865 (54.82%)

152,769

84,094 (55.05%)

24,628

7788 (31.62%)

WhatsHap.Filter

115,745

44,198 (38.19%)

96,783

36,204 (37.41%)

18,864

3540 (18.77%)

SDhaP.100,595

115,813

44,223 (38.18%)

96,835

36,225 (37.41%)

18,887

3542 (18.75%)

MAtCHap

115,813

44,223 (38.18%)

96,835

36,225 (37.41%)

18,887

3542 (18.75%)

HA methods

hg38.DP1

overlap

hg38.DP15

overlap

hg38.DP30

overlap

HapCUT2

100,686

84,197 (83.62%)

99,572

83,851 (84.21%)

63,970

52,185 (81.58%)

MixSIH

100,807

84,239 (83.56%)

99,675

83,887 (84.16%)

64,023

52,203 (81.54%)

PEATH

100,810

84,239 (83.56%)

99,676

83,888 (84.16%)

64,025

52,203 (81.54%)

WhatsHap

100,785

84,332 (83.68%)

99,648

83,983 (84.28%)

63,999

52,265 (81.67%)

WhatsHap.Filter

100,625

84,199 (83.68%)

99,487

83,846 (84.28%)

63,917

52,186 (81.65%)

SDhaP

100,810

84,239 (83.56%)

99,676

83,888 (84.16%)

64,025

52,203 (81.54%)

MAtCHap

100,810

84,239 (83.56%)

99,676

83,888 (84.16%)

64,025

52,203 (81.54%)

  1. The columns are HA methods, numbers of SNVs obtained based on 3 DP level input data, and the corresponding overlap with 3,591,460 SNVs (for the hg19 data) and with 3,632,297 SNVs (for the hg38 data) in known haplotypes