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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Bibliographic Details
Published in:Genome Res
Main Authors: 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
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2020
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Method
Online Access: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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