The role of de novo variants in complex and rare diseases pathogenesis
Journal of Genetic Medicine
; : 1-5, 2015.
Article
em En
| WPRIM
| ID: wpr-18093
Biblioteca responsável:
WPRO
ABSTRACT
De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Pais
/
Esquizofrenia
/
Transtorno Autístico
/
Genoma
/
Doenças Raras
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Desenvolvimento Embrionário
/
Diagnóstico
/
Fertilização
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Células Germinativas
/
Cardiopatias Congênitas
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2015
Tipo de documento:
Article