Fig. 1

Landscape of telomeric content across diseases and impact of alterations in canonical telomere elongation genes. A Boxplot depicting the telomeric content of samples within each disease group. Analysis was restricted to disease groups with more than 40 samples. The median telomeric content of all samples is shown as an orange dotted line. B Boxplot showing the telomeric content of samples with pathogenic alterations in ATRX, DAXX, TERC, and TERTp or are non-altered (WT). Only comparisons against WT are shown. **** signifies p<0.0001. C A plot showing disease groups where ATRX, DAXX, TERC, and TERTp alterations were associated with significant differences in telomeric content. Per gene and tumor type, we compared the frequency of alterations within samples in the top quartile of telomeric content to the frequency of alterations in the bottom quartile. The size of each circle represents the -log₁₀ P value and its position along the x-axis represents the log₂ odds ratio. Genes with a signal in one unique disease group are shown in navy blue, while those with signals in two unique disease groups are colored in mint green. P values were adjusted for multiple hypothesis testing using Bonferroni’s correction. OR, odds ratio. D Boxplots showing the impact of alterations within ATRX, DAXX, TERC, and TERTp on the telomeric content within select diseases are shown. Diseases were selected based on the results shown in C. WT, wild-type; Alt, altered. *** signifies p<0.001 and **** p<0.0001