The role of de novo variants in complex and rare diseases pathogenesis
Journal of Genetic Medicine
;
: 1-5, 2015.
Article
in English
| WPRIM
| ID: wpr-18093
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Schizophrenia
/
Autistic Disorder
/
Genome
/
Rare Diseases
/
Embryonic Development
/
Diagnosis
/
Fertilization
/
Germ Cells
/
Heart Defects, Congenital
Type of study:
Diagnostic study
/
Etiology study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2015
Type:
Article
Similar
MEDLINE
...
LILACS
LIS