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Comment
. 2016 Feb 9;113(6):1477-9.
doi: 10.1073/pnas.1525363113. Epub 2016 Jan 29.

Expanding the phenotype half of the genotype-phenotype space

Maja Bućan  1
Affiliations
Comment

Expanding the phenotype half of the genotype-phenotype space

Maja Bućan. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

The author declares no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Flowchart for the analysis of genome–endophenotype–disease association in psychiatric disorders. Light blue arrow (at top) illustrates a conventional disease or phenotype-first approach for identification of disease risk alleles. The dark blue arrow depicts the sequence-first approach. Exome or whole-genome sequences will identify variants (single-nucleotide polymorphisms or copy number variants) or variants in defined gene sets. These variants are tested for functional impact at a molecular level (eQTL, RNA splicing, epigenetic elements, cycling gene expression, or reporter assays) and on organismal endophenotypes (neuroimagining, neurocognitive traits, rest:activity traits). A subset of these endophenotypes will be disease-associated. Heritability estimates will identify endophenotypes with a strong genetic component and those more influenced by environment.
See this image and copyright information in PMC

Comment on

  • Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder.
    Pagani L, St Clair PA, Teshiba TM, Service SK, Fears SC, Araya C, Araya X, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Navarro L, Freimer DG, Safaie B, Keung LW, Greenspan K, Chou K, Escobar JI, Ospina-Duque J, Kremeyer B, Ruiz-Linares A, Cantor RM, Lopez-Jaramillo C, Macaya G, Molina J, Reus VI, Sabatti C, Bearden CE, Takahashi JS, Freimer NB. Pagani L, et al. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):E754-61. doi: 10.1073/pnas.1513525113. Epub 2015 Dec 28. Proc Natl Acad Sci U S A. 2016. PMID: 26712028 Free PMC article.

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