A Genotype-First Approach to Defining the Subtypes of a Complex Disease
By H. Stessman, R. Bernier, Evan E. Eichler. 2014
215 citations recorded by the source corpus.
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.
Subfields: Genetics
Citations in the corpus
- Temporal Fusion Transformers for Interpretable Multi-horizon Time Series Forecasting (2019, neutral): “-invariant) covariates often play a key role – such as ∗Completed as part of internship with Google Cloud AI Research in healthcare where genetic information can determine the expression of a disease [34]. Given the numerous real-world applications of multi-horizon forecasting, e.g. in retail [5, 10”
- GENETICS AND PATHOGENESIS OF INFLAMMATORY BOWEL DISEASE (2016, unknown): “On the clinical side, whether the field should move from phenotype-based IBD subclassification for patient management to a genotype-first approach remains to be tested (121).”
- Disruptive CHD8 mutations define a subtype of autism early in development (2014, unknown): “This study represents a realization of the genotype-first approach applied to ASD (Hennekam and Biesecker, 2012; Schulze and McMahon, 2004; Stessman et al., 2014).”
- Advancing the understanding of autism disease mechanisms through genetics (2016, unknown): “With regards to nosology, highly penetrant variants may be very useful for defining subtypes of ASD 77 .”