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Mosaicism of mutant alleles determined by PASM. (A) Fractions of mutant alleles in blood samples from six families, identified by PASM. (B) P30’s mother in family 4 underwent prenatal diagnosis, and the fetus carried the same mutation as the proband. FMA, fraction of mutant allele; F, father; M, mother; PASM, personal genome machine amplicon deep sequencing for mosaicism; P, proband.
