Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes

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Figure 1.
Figure 1.

Genomic distribution of pathogenic variants and pipeline for obtaining variants in PAS. (A) Number (left) and frequency (right) of pathogenic variants in different genomic locations. The frequency is normalized to the average length of each genomic region. (B) Flowchart for identifying potential PAS locations in the human genome.

This Article

  1. Published in Advance April 19, 2021, doi: 10.1101/gr.270256.120 Genome Res. 31: 890-899

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