Extended Data Fig. 8: Relatedness and quad analysis diagrams.
From: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
(a) Boxplot shows the relatedness coefficients (y-axis) of all families (dots) and their diagnostic findings based on mode of inheritance (x-axis). The relatedness coefficients were calculated using Peddy48, and required a minimum of 1000 shared heterozygous alternate calls per sample. This boxplot indicates that families that are related are more likely to yield a (candidate) diagnosis (12/16, 75%), compared to unrelated families (93/184, 50.5%), not statistically significant (P value = 0.0710, Two-sided Fisher’s exact test). (b) Diagnostic yield from families with two affected individuals. This bar plot shows the sex of the two affected individuals per family and the exome findings categorised by their ACMG classifications. There is a slightly higher proportion of families, where both affected individuals are males, with no diagnostic finding (8/14, 57.1%) versus mixed sex siblings (2/5, 40%). Abbreviations: ACMG, American College of Medical Genetics; AD, Autosomal dominant; AR, Autosomal recessive; XLR, X-linked recessive; NAD, no abnormalities detected; LP/P, likely pathogenic or pathogenic; VUS, variant of uncertain significance; GUS, Gene of uncertain significance.
