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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Fig. 2

WGS can reveal a broad spectrum of variants with softwares that are specialized for different types of variants. This is a conceptual illustration of variations in the human genome. The Y-axis shows the approximate number of variants in that category while the X-axis shows the approximate size of those variants. The interval below shows that variants of different sizes and sequence compositions can be better detected by leveraging the strength of different callers. SNV: single-nucleotide variation, INDEL: insertions and deletion, SV: structural variant, CNV: copy number variant

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