Article

Recurrence of <i>de novo</i> mutations in families

2017-11-28

Abstract excerpt

<h4>ABSTRACT</h4> De novo mutations (DNMs) cause a large fraction of severe rare diseases of childhood. DNMs that occur in early embryos may result in mosaicism of both somatic and germ cells. Such early mutations may be transmitted to more than one offspring and cause recurrence of serious disease. We scanned 1,007 sibling pairs from 251 families and identified 885 DNMs shared by siblings (ssDNMs) at 451 genomic...

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Literature Corpus work: 85db25e8-c2f4-5665-9c36-ce8d2723a6ce
DOI: 10.1101/221259

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