GenIO Final Report

These are the results of your analysis. The following are the entered parameters. The main results includes the lists of variants which are most probably explaining the patient's case for the different inheritance models. The additional results are provided to have a further understanding of the uploaded genetic profile.

 Job ID: examples/1517239031503, received at Monday 29th of January 2018 12:20:14 PM (GMT-3)
 Email address:
 VCF file: miller-original.vcf
 Status: Done
 Observed symptoms: Micrognathia; Low-set, posteriorly rotated ears; Downslanted palpebral fissures;
 Suspected disease: -None-
 Complementary findings: Cleft eyelid; Supernumerary nipple;
 Minor allele frequency threshold for the recessive model: 0.001  (0.1%)
 Minor allele frequency threshold for the dominant model: Not observed
 Genes of your specific interest: TCOF1

Main Results

Additional Results

Annotated variants (37298 variants)

 Download an enriched VCF file with all the uploaded variants now annotated.

Genes of your interest (5 variants)

 No filter applied: All variants are shown without regard of quality, impact or frequency.

Hospital Ramos Mejia  IIMT MPG IBioBA

Last updated 22nd November 2017. Version 1.0

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