Phen-Gen

DEMO

Sample VCF generated by extracting CEU individual (sample NA06984) from the 1000 Genomes Project. Two DHODH variants implicated for Miller Syndrome in kindred 1 in the oft cited Ng et al. were spiked into this genome.
Sample phenotype file created by extracting HPO terms describing symptoms of Miller Syndrome patients from Phenomizer.
Sample PED file contains a single patient with the disorder.
For this example, Phen-Gen identifies 5 candidate genes with DHODH correctly ranked as the top gene.

INPUT FILES

[?] (*required)
Variants:*              
In VCF. Sample VCF

Phenotypes:*        
In a text file with 1 HPO term per line. Sample phenotype file

Pedigree:*              
In PED format. Sample PED

RUN PARAMETERS

[?]
Disease inheritance pattern:
Recessive
Dominant
Type of prediction:
Coding
Genomic
Discard de novo mutations:
Yes
No
Stringency:

Only digits (0-9)
Your e-mail address:

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To run Phen-Gen with the sample files and default parameters, submit this form.