A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration

@article{Simonett2015AVP,
  title={A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration},
  author={Joseph M. Simonett and Mahsa A. Sohrab and Jennifer Allen Pacheco and Loren L. Armstrong and Margarita Rzhetskaya and Maureen E. Smith and M. Geoffrey Hayes and Amani A. Fawzi},
  journal={Scientific Reports},
  year={2015},
  volume={5}
}
Age-related macular degeneration (AMD), a multifactorial, neurodegenerative disease, is a leading cause of vision loss. With the rapid advancement of DNA sequencing technologies, many AMD-associated genetic polymorphisms have been identified. Currently, the most time consuming steps of these studies are patient recruitment and phenotyping. In this study, we describe the development of an automated algorithm to identify neovascular (wet) AMD, non-neovascular (dry) AMD and control subjects using… 
4 Citations
Genetics and the Variable Phenotype of Age-Related Macular Degeneration.
TLDR
3 major genetic risk variants for AMD in the CFH, ARMS2, and C3 genes are evaluated and their association with pretreatment demographic characteristics and imaging findings in patients with nvAMD is examined, creating new avenues and uncover major challenges in the field of AMD genetics.
Genetically-guided algorithm development and sample size optimization for age-related macular degeneration cases and controls in electronic health records from the VA Million Veteran Program.
TLDR
This two-phase approach to developing research-grade case/control variables for AMD genomic studies capitalizes on established genetic associations resulting in high precision and optimized sample sizes, an approach that can be applied to other large-scale biobanks linked to EHRs for precision medicine research.
Machine Learning Method to Establish the Connection Between Age Related Macular Degeneration and Some Genetic Variations
TLDR
A machine-learning based analysis is presented to determine the relation of three single nucleotide SNPs and the AMD disease and determine the best set of features for the classification process.
Population-Based Penetrance of Deleterious Clinical Variants.
TLDR
In 2 large biobank cohorts, the estimated penetrance of pathogenic/loss-of-function variants was variable but generally low, and was heterogeneous even in known disease predisposition genes.

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