Figure 2.
Mutational constraint on LoF variants in IBMF genes. The blue bar plots indicate the percentage of observed over expected unique pLoF SNVs in IBMF genes grouped as telomere biology disorders (A), inherited red blood cell disorders (B), hematologic malignancy predisposition syndromes (C), inherited neutropenias (D), and chromosomal breakage disorders (E). Genes with <9.2 expected variants are not shown. The pLI score for each gene is plotted as an area plot (peach area under the black line).

Mutational constraint on LoF variants in IBMF genes. The blue bar plots indicate the percentage of observed over expected unique pLoF SNVs in IBMF genes grouped as telomere biology disorders (A), inherited red blood cell disorders (B), hematologic malignancy predisposition syndromes (C), inherited neutropenias (D), and chromosomal breakage disorders (E). Genes with <9.2 expected variants are not shown. The pLI score for each gene is plotted as an area plot (peach area under the black line).

Close Modal

or Create an Account

Close Modal
Close Modal