Probability of any germline mutation to be shared by two siblings

Value 1.3 %
Organism Human Homo sapiens
Reference Rahbari R et al., Timing, rates and spectra of human germline mutation. Nat Genet. 2016 Feb48(2):126-33. doi: 10.1038/ng.3469. abstract & p.127 right column 4th paragraphPubMed ID26656846
Method Abstract: "[Researchers] investigated genome-wide mutation rates and spectra in multi-sibling families."
Comments Abstract: "In contrast to somatic mutations, [researchers] found remarkable consistency in germline mutation spectra between the sexes and at different paternal ages. In parental germ line, 3.8% of mutations were mosaic, resulting in 1.3% of mutations being shared by siblings." P.127 right column 4th paragraph: "First, [researchers] identified ten validated DNMs [de novo mutations] shared by at least two siblings in the same family that are clearly not constitutively heterozygous in either parent (alternative allele fraction <10%). On the basis of these criteria, the probability of any germline mutation being shared by two siblings is 1.3% (Supplementary Table 2)."
Entered by Uri M
ID 112461