Thousands of human mutation clusters are explained by short-range template switching

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Figure 2.
Figure 2.

TSM causing an early stop codon. (A) The three variants included in the HaplotypeSV data appear together in one individual, NA19239. (B) All changes are explained by a template-switch event. (C) The affected sites are within an alternatively spliced exon of gene ANP32E, highlighted in blue. (D) The changes, shown in magenta, alter the reading frame and cause an early stop codon (bottom). Coding sites are shown in red.

This Article

  1. Published in Advance June 27, 2022, doi: 10.1101/gr.276478.121 Genome Res. 32: 1437-1447

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