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 |