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

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Figure 3.
Figure 3.

Causative recessive and X-linked variants' identification in a family presenting with a Mendelian disorder characterized by mental retardation, ataxia, and epilepsy. The number of candidate variants as a function of increasing quality score thresholds obtained by VariantMaster, KGGSeq, PolyMutt + KGGSeq, and FamSeq + KGGSeq is shown. Results obtained by VariantMaster after reduction to 25% coverage (∼10×) in the unaffected individuals are shown in green. All methods except PolyMutt + KGGSeq, which lost the SLC9A6 variant at QS > 700 (black cross) and the ADSL variant at QS > 1000 (red cross), identified the two causative variants at each threshold (for details, see text).

This Article

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

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