Minimizing reference bias with an imputed personalized reference

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Figure 5.
Figure 5.

Bias-by-allele-length plots on HG001 and HG002 donor reads generated for different workflows under analysis. Variants are categorized by length: positive values for insertions, negative for deletions, and zero for SNVs at HET sites across the genome. (A) Allelic balance for indels and SNVs in GIAB HG001 high-confidence regions. (B) Allelic balance for indels and SNVs in GIAB HG002 high-confidence regions.

This Article

  1. Genome Res. 36: 740-753

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