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--- workvafin [2021/01/11 19:21] – [Results and interpretation] mestebanm
+++ workvafin [2021/01/19 17:37] (current) – [Results and interpretation] jdopazo
@@ Line 9: / Line 9: @@
 Hipathia only takes as input **normalized data**, so you will have to correctly normalize the raw expression matrix to be uploaded.
-  * Custom tissue expression matrix after normalization: {{:gExp_onlyControls.txt|Diabetes expression matrix}}
+  * Custom tissue expression matrix after normalization: [[http://hipathia.babelomics.org/data/exp_data_onlyControls.tsv|exp_data_onlyControls.tsv]]
 **3-** Upload the data to HiPathia in the data panel by clicking on //My data//. For further information on this step visit [[upload_your_data|Upload your data]].
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 {{ ::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.