Differences

This shows you the differences between two versions of the page.

--- workvafin [2021/01/13 14:10] – krian
+++ workvafin [2021/01/19 17:37] (current) – [Results and interpretation] jdopazo
@@ Line 37: / Line 37: @@
 {{ ::rap1_signaling_pathway_hsa04015_1_.svg.png?nolink |}}
-Moreover, LoF variants vary considerably in their effects on human phenotype. They can represent severely deleterious disease-causing mutations, however, they will also include mildly deleterious variants with small effects on fitness, and neutral variants disrupting the function of non-essential genes. The Variant interpreter tool here presented aims to provide an engine for //in-silico// simulations of LoF variants on transcriptomic data. The potential of the tool relies on its capability to foreground biological processes potentially affected by LoF variants, enabling to explore the functional map displayed by a single or a set of LoF mutations present on the condition studied. Subsequently, LoF variants affecting highly relevant functions could be interpret as a first line of evidence supporting the pathogenicity of that variant.
+Moreover, LoF variants vary considerably in their effects on human phenotype. They can represent severely deleterious disease-causing mutations, however, they will also include mildly deleterious variants with small effects on fitness, and neutral variants disrupting the function of non-essential genes. The Variant interpreter option provide a user-friendly tool for //in-silico// simulation of the consequences of LoF variants on transcriptomic data. The potential of the tool relies on its capability to foreground biological processes potentially affected by LoF variants, enabling to explore the functional map displayed by a single, or a set of, LoF mutations present in the condition studied. Subsequently, LoF variants affecting highly relevant functions could be interpret as a first line of evidence supporting the pathogenicity of that variant.