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) |
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Pages (from-to) | 872-877 |
Number of pages | 6 |
Journal | Cell |
Volume | 156 |
Issue number | 5 |
DOIs | |
State | Published - Feb 27 2014 |
Externally published | Yes |
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All Science Journal Classification (ASJC) codes
- Biochemistry, Genetics and Molecular Biology(all)
Cite this
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
}
TY - JOUR
T1 - A genotype-first approach to defining the subtypes of a complex disease
AU - Stessman, Holly
AU - Bernier, Raphael
AU - Eichler, Evan E.
PY - 2014/2/27
Y1 - 2014/2/27
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=84896829795&partnerID=8YFLogxK
U2 - 10.1016/j.cell.2014.02.002
DO - 10.1016/j.cell.2014.02.002
M3 - Review article
C2 - 24581488
AN - SCOPUS:84896829795
VL - 156
SP - 872
EP - 877
JO - Cell
JF - Cell
SN - 0092-8674
IS - 5
ER -