Nature 2020 01 30 Part.01

(Ann) #1

Extended Data Fig. 2 | Kinship analysis. Mean genome-wide allelic mismatch
rates for each pair of individuals (blue), as well as intra-individual comparisons
(red), are shown. We selected one read per individual at random at each
targeted SNP (using all 1,233,013 targeted sites). Monozygotic twins (or intra-
individual comparisons) are expected to have a value one-half as large as
unrelated individuals; first-degree relatives, halfway between monozygotic
twins and unrelated individuals; second-degree relatives, halfway between
first-degree relatives and unrelated individuals; and so on. The presence of


inbreeding also serves to reduce the rate of mismatches. For 4/A and 5/B, we
can eliminate a grandparent–grandchild relationship because both died as
children, and the lack of long segments with IBD sharing on both homologous
chromosomes implies that they are not double cousins (the few ostensible
double-IBD stretches are probably a result of inbreeding (Supplementary
Information section 2)). Thus, we can conclude that they were either uncle and
niece (or aunt and nephew) or half-siblings. Bars show 99% confidence intervals
(computed by block jackknife).
Free download pdf