Extended Data Fig. 9. The consequence of intron retention upon the open reading frame for 49,448 canonical introns in clinically relevant Mendelian disease genes.
Variant-activated intron retention elicits a frameshift for 66% introns or encodes a premature termination codon (PTC) in all reading frames for 31% introns. In summary, IR will induce a frameshift or encode a PTC for at least 97% cases and is therefore consistent with null outcomes in most instances. Intron coordinates were extracted from Ensembl (104) via the hg38 genome assembly. IR: intron retention; PTC: premature termination codon.