Figure 4.
Sample outliers identified by the Methylation Outlier Sample Test (MOST). (a) Sample 2-1276-003, carrying a de novo damaging heterozygous mutation at DNMT3A (p.R635W), was identified as an outlier sample in principle component (PC) 9 and 13. (b) Sample 2-0028-003, which carries a de novo frameshift mutation at ADNP (p.Q345fs), was identified as an outlier sample in PC9 and PC11 (and PC14 not shown). (c) Sample 2-1280-003 was identified as an outlier sample in PC 12. No de novo mutation in known epigene was found, but there is a maternal inherited rare damaging missense mutation at KMT5C (p.R205Q). (d) Functional enrichment of genes involved in the PC9 responsible for the sample outliers. Functions from negative loadings are in blue and that from positive loadings are in red.