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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Dades bibliogràfiques
Publicat a:Genome Res
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2020
Matèries:
Method
Accés en línia: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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