Skip to main content
. Author manuscript; available in PMC: 2016 Aug 1.
Published in final edited form as: Nat Biotechnol. 2016 Feb 1;34(3):303–311. doi: 10.1038/nbt.3432

Table 1.

Summary of phasing results.

Phased whole genome sequencing NA12878a NA12877a NA12882a NA20847b Patient 1532 Normalc Patient 1532 Tumorc
Coverage 37 34 36 32 31 32
% aligned 97 97 96 95 96 96
% duplication 1.38 1.38 1.19 6.45 0.5 0.7
Relative genomic equivalents per partition 0.0015 0.002 0.0019 0.0044 0.0015 0.0011
% barcodes correctly assigned 92 87 85 91 88 86
Effective barcode diversity 111808 151552 126326 144442 136888 125694
Number of molecules (Million) 15.0 34.5 23.4 43.7 30.0 20.6
Length-weighted mean molecules length (kb) 60.53 40.20 47.35 75.69 44.35 38.31
% SNPs phased 99 97 99 98 95 95
% genes phased (<100 kb) 97 92 97 95 93 91
N50 phase block (kb) 2834.44 890.08 1726.40 2577.04 1570.40 962.11
Longest phase block (kb) 14557.82 7016.43 11545.49 12729.94 8729.79 6706.66
SNV short switch error rate (%) 0.01% 0.48% 0.20% 0.93% N/A N/A
SNV long switch error rate (%) 0.01% 0.03% 0.02% 0.09% N/A N/A
Phased exome sequencing NA12878a NA12877a NA12882a NA20847b NCI-H2228
Coverage 239 497 443 185 244
% bases on target 57 62 59 62 52
% aligned 99 99 99 99 99
% duplication 8.09 18.03 13.79 4.76 8.26
Relative genomic equivalents per partition 0.0007 0.0010 0.0011 0.0008 0.0007
% barcodes correctly assigned 92 92 92 87 87
Effective barcode diversity 149170 138086 150115 154682 121906
% genes phased (<100 kb) 95 95 96 92 N/A
N50 phase block (kb) 136.54 103.42 113.65 83.94 N/A
Longest phase block (kb) 2086.24 1217.01 1199.03 957.57 N/A
SNV short switch error rate (%) 0.47% 1.10% 0.99% 1.36% N/A
SNV long switch error rate (%) 0.05% 0.11% 0.07% 0.06% N/A
a

. Ground-truth is from Cleary et. al., 201415.

b

. Ground-truth is from Kitzman et. al., 20111.

c

. Ground-truth is from GATK call of 50× whole genome sequencing of these samples from our analysis.