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. 2010 Nov 24;19(1):50–55. doi: 10.1038/ejhg.2010.145

Figure 1.

Figure 1

Detection of sequence variants. A total of 32 nucleotide NGS reads (top, sequence mismatches in red) aligned with the genomic reference sequence (bottom). The center of the alignment shows a variant present in the heterozygous state. ' × n' behind the read indicates how many identical reads were obtained.