A genotype-first approach to defining the subtypes of a complex disease

Holly Stessman; Raphael Bernier; Evan E. Eichler

doi:10.1016/j.cell.2014.02.002

A genotype-first approach to defining the subtypes of a complex disease

Holly Stessman, Raphael Bernier, Evan E. Eichler

Research output: Contribution to journal › Review article

104 Citations (Scopus)

Abstract

Medical genetics typically entails the detailed characterization of a patient's phenotypes followed by genotyping to discover the responsible gene or mutation. Here, we propose that the systematic discovery of genetic variants associated with complex diseases such as autism are progressing to a point where a reverse strategy may be fruitful in assigning the pathogenic effects of many different genes and in determining whether particular genotypes manifest as clinically recognizable phenotypes. This "genotype-first" approach for complex disease necessitates the development of large, highly integrated networks of researchers, clinicians, and patient families, with the promise of improved therapies for subsets of patients.

Original language	English (US)
Pages (from-to)	872-877
Number of pages	6
Journal	Cell
Volume	156
Issue number	5
DOIs	https://doi.org/10.1016/j.cell.2014.02.002
State	Published - Feb 27 2014
Externally published	Yes

Fingerprint

Genes

Genotype

Phenotype

Medical Genetics

Autistic Disorder

Research Personnel

Mutation

Therapeutics

Genetics

All Science Journal Classification (ASJC) codes

Biochemistry, Genetics and Molecular Biology(all)

Cite this

Stessman, H., Bernier, R., & Eichler, E. E. (2014). A genotype-first approach to defining the subtypes of a complex disease. Cell, 156(5), 872-877. https://doi.org/10.1016/j.cell.2014.02.002

A genotype-first approach to defining the subtypes of a complex disease. / Stessman, Holly; Bernier, Raphael; Eichler, Evan E.

In: Cell, Vol. 156, No. 5, 27.02.2014, p. 872-877.

Research output: Contribution to journal › Review article

Stessman, H, Bernier, R & Eichler, EE 2014, 'A genotype-first approach to defining the subtypes of a complex disease', Cell, vol. 156, no. 5, pp. 872-877. https://doi.org/10.1016/j.cell.2014.02.002

Stessman H, Bernier R, Eichler EE. A genotype-first approach to defining the subtypes of a complex disease. Cell. 2014 Feb 27;156(5):872-877. https://doi.org/10.1016/j.cell.2014.02.002

Stessman, Holly ; Bernier, Raphael ; Eichler, Evan E. / A genotype-first approach to defining the subtypes of a complex disease. In: Cell. 2014 ; Vol. 156, No. 5. pp. 872-877.

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Access to Document

10.1016/j.cell.2014.02.002