Fig. 1

a The principle of scHaplotyper. First, trio father-mother-child and father-mother-embryo “core families” are constructed, and the affected child and embryos are phased to paternal and maternal inheritance. The affected child-inherited paternal and maternal haplotypes are shown as red and yellow, respectively. Second, the haplotypes of the embryos are reconstructed by regarding the affected child as a reference. The horizontal line indicates the mutation position on the chromosome. The embryo is diagnosed as carrying paternal and/or maternal mutations when the embryo inherits the same paternal and/or maternal haplotype block as the affected child at the mutation position on the chromosome