Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

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Figure 2.
Figure 2.

Extraction of de novo mutations from the CEU trio. Precisions obtained by VariantMaster, KGGSeq, and PolyMutt + KGGSeq, as functions of increasing quality score thresholds, have been plotted. Losses of true de novo variants have been emphasized with color-matching arrows. Precisions obtained by VariantMaster with a reduction to 25% coverage (∼10×) in the unaffected individuals are shown in green.

This Article

  1. Published in Advance January 3, 2014, doi: 10.1101/gr.163832.113 Genome Res. 24: 349-355

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