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)." |