Fig. 10: Factors that contribute to absence of support for duplications in HG002. | Nature Communications

Fig. 10: Factors that contribute to absence of support for duplications in HG002.

From: SurVIndel2: improving copy number variant calling from next-generation sequencing using hidden split reads

Fig. 10: Factors that contribute to absence of support for duplications in HG002.

a Surprisingly, only 16% of the unsupported duplications (left) have a low expected support (ES) score  (< 0.3). Most unsupported duplications (77%) have high ES (≥ 0.5). Supported duplications also have high ES, as expected (right). b The effect of poorly sequenced regions is even more dramatic on tandem duplications than it is on deletions. Despite the high ES, most unsupported sequences have very few or no reads containing a breakpoint.

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