Extended Data Figure 9 : PROMIS participants have an excess burden of runs of homozygosity compared with other populations.

From: Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Extended Data Figure 9

Consanguinity leads to regions of genomic segments that are identical by descent and can be observed as runs of homozygosity. Using genome-wide array data in 17,744 PROMIS participants and reference samples from the International HapMap3, the burden of runs of homozygosity (minimum 1.5 Mb) per individual was derived and population-specific distributions are displayed, with outliers removed. This highlights the higher median runs of homozygosity burden in PROMIS and the higher proportion of individuals with very high burdens.