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Sperm mosaicism predicts transmission of <i>de novo</i> mutations to human blastocysts

2022-03-28

Abstract excerpt

De novo mutations underlie individually rare but collectively common pediatric congenital disorders. Some of these mutations can also be detected in tissues and from cells in a parent, where their abundance and tissue distribution can be measured. We previously reported that a subset of these mutations is detectable in sperm from the father, predicted to impact the health of offspring. Here, in three independent c...

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Identifiers and source

Literature Corpus work
3b0577c0-7874-599d-9617-e06b03c69d3a
DOI
10.1101/2022.03.28.486034
Open publication

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Sperm mosaicism predicts transmission of <i>de novo</i> mutations to human blastocystsDOI 10.1101/2022.03.28.486034
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