A New Role for Endophenotypes in the GWAS Era: Functional Characterization of Risk Variants
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Editor 1From Harvard Medical School (Drs. Hall and Smoller); Psychology Research Laboratory, McLean Hospital, Belmont, MA (Dr. Hall); Psychiatric Genetics Program in Mood and Anxiety Disorders, Department of Psychiatry and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA (Dr. Smoller). Supported, in part, by the National Alliance for Research on Schizophrenia and Depression (NARSAD) Sidney R. Baer, Jr. Foundation Young Investigator Award and NIMH grant no. 2T32MH016259-29A1 (Dr. Hall); NIMH grant nos. MH079799 and MH085542 (Dr. Smoller). *Correspondence: Mei-Hua Hall, PhD, Harvard Medical School, Psychology Research Laboratory, McLean Hospital, 115 Mill St., Belmont, MA 02478. E-mail:[email protected] Original manuscript received 25 March 2009; accepted 8 June 2009 Original manuscript received 18 June 2009
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Using quantitative endophenotypes as the primary endpoint for GWAS instead of a binary classification of presence/absence of disease enables a more precise phenotype measurement, thus increasing the power for identification of genetic variants associated with disease.
“Using quantitative endophenotypes as the primary endpoint for GWAS instead of a binary classification of presence/absence of disease enables a more precise phenotype measurement, thus increasing the power for identification of genetic variants associated with disease [207]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [207]
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- Authors
- Hall, M.-H.
- Affiliations
- Harvard University (US)
- Corresponding author
- Hall, Mei-Hua
- ORCID
- Hall, Mei-Hua
- Venue
- Harvard Review of Psychiatry
- Published
- 2010-01
- Volume
- 18
- Issue
- 1
- Pages
- 67-74
- ISSN
- 1067-3229 (ISSN-L)
- PMC
- PMC3586547
- OpenAlex
- W2081091104
- Cited by
- 66
- References
- 91
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 3 · 2021: 1 · 2020: 3 · 2019: 5 · 2018: 4 · 2017: 6 · 2016: 3 · 2015: 5 · 2014: 6 · 2013: 9 · 2012: 7
- FWCI
- 3.78
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Harvard Review of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH079799, MH-079799, MH085542, K01MH086714, R01MH085542, T32MH016259)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Mental Health Research Topics
- Keywords
- endophenotypes, genome-wide association study, psychiatric genetics, schizophrenia, bipolar disorder, mood disorders, anxiety disorders, genetic susceptibility
- MeSH terms
- Mental Disorders, Humans, Phenotype, Risk Factors, Genetic Variation, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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