Simultaneous assessment of human genome and methylome data in a single experiment using limited deamination of methylated cytosine

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Figure 4.
Figure 4.

Performance of RIMS-seq2 (DNA sequencing). (A) Germline transitions/transversion profiles for JIMB and RIMS-seq2 WGS for homozygous (top) and heterozygous (bottom) SNPs. In all cases, transitions represent the majority of the SNPs identified. (B) Precision of variant calling for standard DNA-seq and RIMS-seq2 targeted-exome sequencing. (C) Precision, sensitivity, and F-score for WGS RIMS-seq2 (full data set and downsampled to 30-fold coverage). (D) The effect of the DP filter on precision.

This Article

  1. Genome Res. 34: 904-913

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