ID
45528
Descrizione
Principal Investigator: Mary-Claire King, University of Washington, Seattle, WA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000738 Schizophrenia is a complex neuropsychiatric disorder characterized by marked genetic heterogeneity. Much of the genetic architecture of the disorder has yet to be explained, but *de novo* mutations appear to play an important role. We used exome sequencing of parent-offspring quads and trios to detect *de novo* mutations in persons with schizophrenia. Patients were more likely to harbor one or more damaging *de novo* mutations, as compared to their healthy siblings. The genes disrupted by damaging mutations in patients operated in processes important to early brain development.
collegamento
Keywords
versioni (1)
- 27/12/22 27/12/22 - Chiara Middel
Titolare del copyright
Mary-Claire King, University of Washington, Seattle, WA, USA
Caricato su
27 dicembre 2022
DOI
Per favore, per richiedere un accesso.
Licenza
Creative Commons BY 4.0
Commenti del modello :
Puoi commentare il modello dati qui. Tramite i fumetti nei gruppi di articoli e articoli è possibile aggiungere commenti a quelli in modo specifico.
Commenti del gruppo di articoli per :
Commenti dell'articolo per :
Per scaricare i modelli di dati devi essere registrato. Per favore accesso o registrati GRATIS.
dbGaP phs000738 Exome Sequencing in Schizophrenia Families
Similar models
Subject - Sample Mapping
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])