High-Throughput MALDI-TOF Discovery of Genomic Sequence Polymorphisms

Table 1.

Effect of Amplicon Length and Zygosity on Assay Performance


Amplicon length (bp)

Detection, characterization, and mappinga

Detection and characterizationb

Detectionc

No detection
Homozygous replacements
      100 95.47 ± 3.64 4.40 ± 3.25 0.05 ± 0.38 0.08 ± 0.72
      200 93.74 ± 2.90 6.01 ± 2.56 0.11 ± 0.37 0.14 ± 0.62
      300 92.09 ± 2.51 7.43 ± 2.08 0.25 ± 0.46 0.23 ± 0.75
      400 90.43 ± 2.72 8.88 ± 2.17 0.41 ± 0.52 0.29 ± 0.77
      500 88.69 ± 2.70 10.30 ± 2.16 0.64 ± 0.62 0.38 ± 0.75
      600 87.04 ± 2.73 11.56 ± 2.17 0.93 ± 0.75 0.49 ± 0.78
      700 85.40 ± 2.40 12.77 ± 1.94 1.20 ± 0.71 0.64 ± 0.86
      800 83.83 ± 2.26 13.85 ± 1.69 1.54 ± 0.90 0.77 ± 0.95
      900 82.10 ± 2.58 14.90 ± 1.73 2.06 ± 1.04 0.94 ± 0.85
   1000 80.72 ± 2.49 15.79 ± 1.64 2.40 ± 1.18 1.09 ± 1.04
Heterozygous replacements
      100 94.24 ± 4.25 5.28 ± 3.48 0.22 ± 0.97 0.26 ± 1.16
      200 91.63 ± 3.43 7.23 ± 2.61 0.62 ± 1.09 0.51 ± 1.00
      300 88.97 ± 3.11 8.93 ± 2.13 1.24 ± 1.27 0.88 ± 1.12
      400 86.31 ± 3.26 10.42 ± 2.09 2.04 ± 1.36 1.24 ± 1.18
      500 83.36 ± 3.20 11.81 ± 1.96 3.14 ± 1.59 1.68 ± 1.20
      600 80.66 ± 3.49 12.71 ± 1.97 4.46 ± 1.79 2.17 ± 1.34
      700 77.77 ± 3.31 13.54 ± 1.85 5.91 ± 1.95 2.78 ± 1.38
      800 75.28 ± 3.13 14.25 ± 1.59 7.31 ± 1.92 3.17 ± 1.42
      900 72.56 ± 3.71 14.75 ± 1.51 8.87 ± 2.36 3.82 ± 1.50
   1000
70.43 ± 3.41
15.20 ± 1.49
10.08 ± 2.35
4.29 ± 1.66
  • a % SNPs (±sd) that can be detected, characterized (i.e., determination of the nature of the substitution), and unambiguously mapped

  • b % SNPs (±sd) that can be detected and characterized but not unambiguously positioned; typically, the ambiguity is restricted to a few (in many cases two) nearby positions

  • c % SNPs (±sd) that can be detected but not characterized; only a minor fraction of these SNPs can be positioned (i.e., the one uncertainty is the nature of the substitute base)

This Article

  1. Genome Res. 14: 126-133

Preprint Server