Assessing the impact of mutations found in next generation sequencing data over human signaling pathways.

Abstract excerpt

Modern sequencing technologies produce increasingly detailed data on genomic variation. However, conventional methods for relating either individual variants or mutated genes to phenotypes present known limitations given the complex, multigenic nature of many diseases or traits. Here we present PATHiVar, a web-based tool that integrates genomic variation data with gene expression tissue information. PATHiVar...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gene Expression
• Share to Genomics