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.
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Versions (1)
- 27/12/2022 27/12/2022 - Chiara Middel
Détendeur de droits
Mary-Claire King, University of Washington, Seattle, WA, USA
Téléchargé le
27 décembre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000738 Exome Sequencing in Schizophrenia Families
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Eligibility Criteria
C0680251 (UMLS CUI [1,2])
C0220952 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
C4534351 (UMLS CUI [1,4])
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