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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2020
Assuntos:
Method
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados