Article

Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation

2019-02-17

Abstract excerpt

The number of de novo mutations (DNMs) found in an offspring’s genome is known to increase with both paternal and maternal age. But does the rate of mutation accumulation in parental gametes differ across families? To answer this question, we analyzed DNMs in 33 large, three-generation families collected in Utah by the Centre d’Etude du Polymorphisme Humain (CEPH) consortium. We observed significant variability in...

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Literature Corpus work: f391ce09-4b58-5ca4-bc1b-f585dfa2ed22
DOI: 10.1101/552117

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