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Table 1 Sequencing metrics for libraries prepared from low DNA input amounts

From: Bead-linked transposomes enable a normalization-free workflow for NGS library preparation

Input NA12878 DNA, ng

0.01

0.1

0.5

1

25

100

PCR cycles

19

15

13

12

6

5

Library yield, ng

101.0

149.1

243.3

267.6

188.5

324.2

Total paired-end reads

4.94E + 08

5.09E + 08

4.55E + 08

5.01E + 08

5.08E + 08

5.04E + 08

Bases ≥ Q30, %

88.4%

89.3%

89.8%

89.7%

89.9%

89.0%

Aligned reads, %

94.4%

95.7%

93.5%

96.3%

96.8%

96.6%

Insert size median, bp

258

255

241

302

317

343

Mean coverage, X

2.4

9.1

22.8

30.1

40.1

40.1

Autosome coverage ≥1×, %

47.3%

99.3%

99.6%

99.6%

99.6%

99.6%

Autosome coverage ≥10×, %

5.4%

38.0%

98.1%

98.6%

98.8%

98.8%

Callability, %

7.7%

73.0%

96.5%

96.8%

97.0%

97.0%

Exon callability, %

8.0%

75.1%

98.6%

98.7%

98.9%

98.9%

SNV recall, %

14.8%

85.7%

98.2%

98.7%

99.0%

99.0%

SNV precision, %

42.5%

82.2%

99.1%

99.6%

99.8%

99.8%

Indel recall, %

5.6%

55.9%

88.1%

91.6%

95.3%

95.6%

Indel precision, %

54.1%

77.5%

83.8%

88.1%

97.1%

97.6%

  1. Libraries were prepared from 0.01 to 100 ng of human gDNA (NA12878). Data was generated on a HiSeqX (2 × 150 bp) and data analysis performed using the BaseSpace Whole Genome Sequencing app. Q scores are a sequencing quality metric, with a Q score of 30 (Q30) indicating that the probability of an incorrect base call is 1 in 1000, which equates to a base call accuracy of 99.9%. Callability describes the percentage of base calls in the data set that pass the quality metrics required for making a genotype call; base quality, alignment quality, and minimum coverage levels are considered. SNV Single-nucleotide variant, Indel Insertion/deletion