Identification of paternal germline mosaicism by MicroSeq and targeted next-generation sequencing.,Molecular Genetics & Genomic Medicine

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Identification of paternal germline mosaicism by MicroSeq and targeted next-generation sequencing.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-09 , DOI: 10.1002/mgg3.1394
Congling Dai ₁ , Dehua Cheng _{1,

2} , Weina Li ₂ , Sicong Zeng _{2,

3} , Guangxiu Lu _{1,

2,

3,

4} , Qianjun Zhang _{1,

2,

4}

Affiliation

Prezygotic de novo mutations may be inherited from parents with germline mosaicism and are often overlooked when the resulting phenotype affects only one child. We aimed to identify paternal germline mosaicism in an index family and provide a strategy to determine germline mosaicism.‘

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