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Fig. 1 | Genome Biology

Fig. 1

From: Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome

Fig. 1

In silico chromosome design and experimental workflow. a The in silico decoy chromosome is designed to incorporate difficult and clinically important features of the human genome. The chromosome is divided into (i) small variants (including SNPs and indels) and simple repeats, (ii) structural variants (including large insertions, deletions, duplications, inversions, and translocations), (iii) HLA genes, and (iv) immune receptor genes. b The schematic diagram illustrates the use of synthetic DNA controls (sequins) and the in silico chromosome during the NGS workflow (upper panel). The range of experimental variables evaluated within this study, including difficult genetic features, library preparation methods, sequencing instruments, and bioinformatic tools, are indicated (lower panel)

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