Exomiser :: Analysis

Upload Sample Files

VCF file:

Required. Upload exome sequencing results in VCF format. We can only accept files containing up to 100000 variants. Example file with causative FGFR2 variant for the autosomal dominant Pfeiffer syndrome added to exome of a healthy individual

PED file:

Only required for multi-sample VCF files

Proband:

Sample identifier for the proband as in the VCF and PED files. Only required for multi-sample VCF files

Enter Sample Phenotypes

Phenotypes associated with Mendelian disease:

Clinical phenotypes:

Input terms from the HPO. These will override any phenotypes derived from the specified disease!

Set Filtering Parameters

Minimum variant call quality:

Phred

Remove all dbSNP variants:

Keep off-target variants:

Genetic interval:

Chr

Keep non-pathogenic variants:

Inheritance model:

Maximum minor allele frequency:

MAF %

Filter for genes:

Choose Prioritiser

Prioritise genes using:

Please be patient and do not mash the submit button - the analysis could take a minute or two depending on the size of the sample and load on the server. VCF files are stored as temporary files on our server and deleted following analysis. For performance reasons only the top 30 genes are returned. If you require the Exomiser for analysing large samples or batches of multiple samples we strongly suggest you download and run the offline version available from the FTP site. The Exomiser is freely available for academic users or for private use. Other users are requested to contact us to obtain a license.

Analysis Options

Upload Sample Files

Enter Sample Phenotypes

Set Filtering Parameters

Choose Prioritiser