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

Holly A. Stessman, Raphael Bernier, Evan E. Eichler

Research output: Contribution to journalComment/debatepeer-review

158 Scopus citations


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 languageEnglish (US)
Pages (from-to)872-877
Number of pages6
Issue number5
StatePublished - Feb 27 2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)


Dive into the research topics of 'A genotype-first approach to defining the subtypes of a complex disease'. Together they form a unique fingerprint.

Cite this