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A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome

2020-02-11

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<h4>ABSTRACT</h4> De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (DNM or familial mutation (FM)) of deleterious autosomal dominant germline mutations for any syndrome. We introduce Famdenovo.TP53 for Li-Fraumeni syndrome (LFS)...

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Literature Corpus work: 2f962357-592b-5677-a524-e68b632e9c2b
DOI: 10.1101/2020.02.10.942409

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A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndromeDOI 10.1101/2020.02.10.942409Read

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A pedigree-based prediction model identifies carriers of deleterious <i>de novo</i> mutations in families with Li-Fraumeni syndrome

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