Identifying crossovers and shared genetic material in whole genome sequencing data from families

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Figure 1.
Figure 1.

Precision and recall of PhasingFamilies on the NA1281 platinum family and simulated genomes. At top left, we identify crossovers in the 11 children of NA12878 using PhasingFamilies and compare them to crossovers detected by Eberle et al. (2017). PhasingFamilies shows high recall. Its precision is significantly higher on paternal crossovers than maternal crossovers. At right we show that many of the crossovers called by PhasingFamilies but not Eberle et al. (2017) are very close to other crossovers. Next we simulated 100 children with known crossover locations using genetic data from the NA1281 family. At lower left, we see that PhasingFamilies shows high precision and recall on this simulated data.

This Article

  1. Genome Res. 33: 1747-1756

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