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

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 domina...

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Bibliografiset tiedot
Julkaisussa:Genome Res
Päätekijät: Gao, Fan, Pan, Xuedong, Dodd-Eaton, Elissa B., Recio, Carlos Vera, Montierth, Matthew D., Bojadzieva, Jasmina, Mai, Phuong L., Zelley, Kristin, Johnson, Valen E., Braun, Danielle, Nichols, Kim E., Garber, Judy E., Savage, Sharon A., Strong, Louise C., Wang, Wenyi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Cold Spring Harbor Laboratory Press 2020
Aiheet:
Method
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7462073/
https://ncbi.nlm.nih.gov/pubmed/32817165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.249599.119
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