Understanding genetic variants in context
- Herbold Computational Biology Program, Fred Hutchinson Cancer Center, United States
- Department of Genome Sciences, University of Washington, United States
- Brotman Baty Institute for Precision Medicine, United States
- Department of Medicine, University of Washington, United States
- Donnelly Centre and Departments of Molecular Genetics and Computer Science, University of Toronto, Canada
- Lunenfeld-Tanenbaum Research Institute, Mt. Sinai Hospital, Canada
- Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, United States
- Department of Bioengineering, University of Washington, United States
Figures
Figure 1
Only a small number of coding variants have annotations that can guide diagnosis and treatment.
As exome and whole-genome sequencing becomes commonplace in the clinic, the number of variants of uncertain significance is likely to increase.
Figure 2
Multiplex assays of variant effect (MAVEs) in context.
(A) MAVEs in cell lines can assay many variants for simple phenotypes like cell growth. Models like organoids and mice allow for measuring complex multicellular phenotypes like proportions of cell …
Figure 3
Environmental context is key to trait interpretation.
(A) Adapted from Figure 1 of Ebrahim et al., 2010, age-, factory-, and occupation-adjusted percent prevalence (95% CI) of diabetes by type of migrant and sex, Indian migration study 2005–2007. …
