Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
Abstract
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq data from 31,499 samples to predict which genes cause specific disease phenotypes, and develop GeneNetwork Assisted Diagnostic Optimization (GADO). We show that this unbiased method, which does not rely upon specific knowledge on individual genes, is effective in both identifying...
Paper Details
Title
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
Published Date
Jun 28, 2019
Journal
Volume
10
Issue
1
Pages
2837 - 2837
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