ArticleNature genetics2020
Minimal phenotyping yields genome-wide association signals of low specificity for major depression.
Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 215 papers, 13 of them syntheses that pooled it.
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Who cites it
215 citing papers in PubMed, 13 syntheses or guidelines pooled it, 366 citations in OpenAlex.
- Genome-wide meta-analysis of quantitatively measured generalized anxiety symptoms in individuals of European ancestry.Nature human behaviour · 2026Pooled it
- The predictive value of polygenic risk scores for depression in gene-environment interaction studies: a systematic review.Translational psychiatry · 2026Pooled it
- Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling.Nature genetics · 2026Pooled it
- Sex-stratified genome-wide association meta-analysis of major depressive disorder.Nature communications · 2025Pooled it
- Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.Nature genetics · 2025Pooled it
- Pooled it
- Pooled it
- Genome-Wide Association Study of Chronic Dizziness in the Elderly Identifies Loci Implicating MLLT10, BPTF, LINC01224, and ROS1.Journal of the Association for Research in Otolaryngology : JARO · 2023Pooled it
- Investigating the relationship between depression and breast cancer: observational and genetic analyses.BMC medicine · 2023Pooled it
- Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals.Nature genetics · 2023Pooled it
- Psychological distress and metabolomic markers: A systematic review of posttraumatic stress disorder, anxiety, and subclinical distress.Neuroscience and biobehavioral reviews · 2022Pooled it
- Genetics of age-at-onset in major depression.Translational psychiatry · 2022Pooled it
- Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions.Nature neuroscience · 2021Pooled it
- Genetics of major depressive disorder in a homogeneous population with uniform phenotyping.Molecular psychiatry · 2026Article
- Big data research: the importance of the data-generating process and domain expertise.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026Article
- Balancing phenotyping depth and representativeness in psychiatric genomics.Nature genetics · 2026Article
- Social disconnection integrates genetic and proteomic risks in suicidal ideation and depression.Translational psychiatry · 2026Article
- Immune markers mediate genetic relationships between immune diseases and psychiatric disorders.PLoS genetics · 2026Article
- A genome-wide investigation of depression among individuals with and without irritability.Molecular psychiatry · 2026Article
- Context-specific genetic effects inform endotypes and treatment in asthma.The Journal of allergy and clinical immunology · 2026Article
155 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
33 authors at 20 institutions in 9 countries.
Funding
Abstract
Minimal phenotyping refers to the reliance on the use of a small number of self-reported items for disease case identification, increasingly used in genome-wide association studies (GWAS). Here we report differences in genetic architecture between depression defined by minimal phenotyping and strictly defined major depressive disorder (MDD): the former has a lower genotype-derived heritability that cannot be explained by inclusion of milder cases and a higher proportion of the genome contributing to this shared genetic liability with other conditions than for strictly defined MDD. GWAS based on minimal phenotyping definitions preferentially identifies loci that are not specific to MDD, and, although it generates highly predictive polygenic risk scores, the predictive power can be explained entirely by large sample sizes rather than by specificity for MDD. Our results show that reliance on results from minimal phenotyping may bias views of the genetic architecture of MDD and impede the ability to identify pathways specific to MDD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.