Tutorial

This section explains how to use main tasks for BiERapp:

Upload & manage

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). More information about Variant Calling Format.

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:

based on known population frequencies, predicted pathologic effect, consequence types, etc. intuitive filter that allows reproducing any familiar pedigree with any inheritance model (including incomplete penetrance) and facilitates the selection of variants (and genes with deleterious variants) segregating along the family. Also case-control or sporadic de novo mutational diseases can be analysed in this framework. BiERapp also manages efficiently missing values.

BiERapp outputs:

• Summary: global statistics and a graphical representation for consequence type.
• Variants and effects: detected variants and its effects for all samples.
• Genome viewer: selected variants can be visualized from this genome browser