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Tutorial

mermegar edited this page Jul 18, 2016 · 87 revisions

BiERapp is an interactive web application for assisting in gene prioritization in whole exome sequencing (WES) experiments.

This section explains how to use main tasks for BiERapp:

  • On the right top of home page, there are two buttons Login and Sign up, and a help option that contains: documentation and tutorial.

bierapp_login

  • After logging in, other options can be visualized on the top of main page.

bierapp_home

  • To create a new account in BiERapp, you only have to click sign in. It will appear a new window where you can select new account and fill in some fields. It is free. Once your account is created you can log in into a private session. All the jobs you run and all the panels you create will be saved there and will appear in the next session.
  • We'll see the different functionalities of the tool.

Loading Samples

From My Data or from Study Browser you can:

  • Create a Project
  • Create a Study
  • Upload Files: The input is a VCF file: individual VCF file for only one sample or multisample VCF file for several samples (families or group of cases /controls).

bierapp_upload

bierapp_indexing

How does BiERapp work?:

  • After uploading VCF file, BiERapp detects variants for all samples.
  • Initial results show the whole set of variants. This is a general first view of detected variants. Next step for each user is defining his own strategy of filtering according to his interests.

Filtering options:

There are several filters to define the best strategy of variant selection. It is possible to choose one or several filtering options at the same time:

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