ID
45528
Description
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.
Link
Keywords
Versions (1)
- 12/27/22 12/27/22 - Chiara Middel
Copyright Holder
Mary-Claire King, University of Washington, Seattle, WA, USA
Uploaded on
December 27, 2022
DOI
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000738 Exome Sequencing in Schizophrenia Families
The dataset informs about race and gender of participants.
Similar models
The dataset informs about race and gender of participants.
C2348585 (UMLS CUI [1,2])
No comments