Genetic analysis of deep phenotyping projects in common disorders
- Elliot S. Gershon(corresponding author),
- Godfrey Pearlson,
- Matcheri S. Keshavan,
- Carol Tamminga,
- Brett Clementz,
- Peter F. Buckley
- The University of Chicago,
- Institute of Living,
- Yale University,
- Harvard University,
- University of Texas Southwestern Medical Center,
- University of Georgia
Open access
Sustainable Development Goals
- SDG 3 Good Health and Well
Abstract
Several studies of complex psychotic disorders with large numbers of neurobiological phenotypes are currently under way, in living patients and controls, and on assemblies of brain specimens. Genetic analyses of such data typically present challenges, because of the choice of underlying hypotheses on genetic architecture of the studied disorders and phenotypes, large numbers of phenotypes, the appropriate multiple testing corrections, limited numbers of subjects, imputations required on missing phenotypes and genotypes, and the cross-disciplinary nature of the phenotype measures. Advances in genotype and phenotype imputation, and in genome-wide association (GWAS) methods, are useful in dealing with these challenges. As compared with the more traditional single-trait analyses, deep phenotyping with simultaneous genome-wide analyses serves as a discovery tool for previously unsuspected relationships of phenotypic traits with each other, and with specific molecular involvements.
Publication Information
Output type
Original language
English (US)Pages from-to (Number of pages)
Pages 51-57 (7 pages)Journal (Volume, Issue Number)
Schizophrenia Research (Volume 195)Publication milestones
- Accepted/In press - 01/01/2017
- Published - 05/2018
Publication status
ISSN
0920-9964Publication IDs
- Scopus: 85031759754
