Ontology highlight
ABSTRACT:
SUBMITTER: Wilbe M
PROVIDER: S-EPMC5725701 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Wilbe Maria M Gudmundsson Sanna S Johansson Josefin J Ameur Adam A Stattin Eva-Lena EL Annerén Göran G Malmgren Helena H Frykholm Carina C Bondeson Marie-Louise ML
Prenatal diagnosis 20171017 11
<h4>Objective</h4>De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred.<h4>Methods</h4>We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction.<h4>Res ...[more]