Targeted genotyping of variable number tandem repeats with adVNTR

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Figure 3.
Figure 3.

VNTR genotyping using Illumina data. (A–D) Correctness of RU count prediction for 1775 coding VNTRs in the IlluminaSim data set, described by RU count discrepancy (A), haplotypes with correct estimates (B), correctness as a function of VNTR length (C), and RU length (D). (E) Consistency of adVNTR calls on the AJ trio WGS data from GIAB. The red line describes the cumulative number of calls made at specific posterior probability cutoffs. (F) Gel electrophoresis–based validation of adVNTR calls on five short VNTRs using WGS of individual NA12878 from GIAB. The red arrows correspond to VNTR lengths estimated by multiplying the RU lengths with the estimated RU counts.

This Article

  1. Published in Advance October 23, 2018, doi: 10.1101/gr.235119.118 Genome Res. 28: 1709-1719

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