A Genotype-First Approach to Defining the Subtypes of a Complex Disease

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 poin...

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Bibliographic Details
Published in:Cell 2014-02, Vol.156 (5), p.872-877
Main Authors: Stessman, Holly A., Bernier, Raphael, Eichler, Evan E.
Format: Article
Language:English
Subjects:
Autistic Disorder - classification
Autistic Disorder - diagnosis
Autistic Disorder - genetics
Community Networks
Exome
Genetic Heterogeneity
Genotype
Humans
Mutation
Phenotype
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Summary: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.
ISSN:0092-8674
1097-4172
DOI:10.1016/j.cell.2014.02.002