Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance

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Figure 4.
Figure 4.

Quantification of DNA contamination in the offspring by multiple family members. We simulated DNA contaminations with various fractions of the father, mother, sibling, and offspring's BAM files. TrioMix's estimation of intrafamilial DNA fraction and the “ground truth” used for simulation are drawn next to each other. Simulations are grouped with different combinations of intrafamilial sources. Cosine similarities between the truth and TrioMix estimated fractions are shown on top of each case. Family members used for creating the simulated DNA contamination are shown with filled circles for each case.

This Article

  1. Genome Res. 32: 2134-2144

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