Mercurial > repos > elixir-it > vinyl_survival

comparison survival_M.xml @ 2:978e043603f7 draft default tip

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author elixir-it
date Wed, 15 Jul 2020 07:55:47 +0000
parents a3342d37ab29
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1:2d8f37e3b774 2:978e043603f7
35 level="fatal" 35 level="fatal"
36 description="Unknown error encountered" /> 36 description="Unknown error encountered" />
37 </stdio> 37 </stdio>
38 <tests> 38 <tests>
39 <test> 39 <test>
40 <param format="tabular,csv" name="csv1" value="ALL_DCM.csv" ftype="csv" /> 40 <param format="tabular,csv" name="csv1" value="VINYL_input1.tabular" ftype="tabular" />
41 <param format="tabular,csv" name="csv2" value="test_DCM.csv" ftype="csv" /> 41 <param format="tabular,csv" name="csv2" value="VINYL_input2.tabular" ftype="tabular" />
42 <output name="tabular" file="output_survival_test" ftype="tabular" /> 42 <output name="tabular" file="survival_output.tabular" ftype="tabular" />
43 </test> 43 </test>
44 </tests> 44 </tests>
45 <help> 45 <help>
46 **What it does** 46 **What it does**
47 VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annotations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals. 47 VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annotations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals.