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Fig. 1 | Genome Medicine

Fig. 1

From: A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Fig. 1

Comparison of quality metrics of 18-h and 26-h 2 × 100 nt runs. The runs were WGS of sample UDT_173 [12]. a–d. Base composition was not materially different in the 18-h and 26-h runs. However, the % non-AGTC reads was lower in the 18-h run. This may either reflect better sequence quality or lower cluster density. e–h. Frequency distribution of GC content of 18-h and 26-h runs. While the number of reads (y-axis) differed between runs, 18-h and 26-h runs had identical GC content distributions, with sequence representation between GC content of 15 % and 75 %. GC content varies widely across the human genome ― the isochore structure of the human genome [24, 35]. The median genome GC content estimated by 18-h and 26-h WGS (35–40 %) agreed with the estimated median from the 1,000 genomes project [36] (38.6 %), and is slightly lower than estimates by cesium density gradient centrifugation [42, 43] (39.6–40.3 %). i–l. Quality scores of nucleotide calls as a function of cycle were indistinguishable in 18-h and 26-h runs

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