Article

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis

2018-07-24

Abstract excerpt

Clinical interpretation of exome and genome sequencing data remains challenging and time consuming, with many variants with unknown effects found in genes with unknown functions. Automated prioritization of these variants can improve the speed of current diagnostics and identify previously unknown disease genes. Here, we used 31,499 RNA-seq samples to predict the phenotypic consequences of variants in genes. We de...

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Literature Corpus work: 1679bffb-7dce-5c0c-b7a4-7cb18e650a64
DOI: 10.1101/375766

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