GenIO Results!

Here we present the results of your analysis. The following are the entered parameters and below the lists of variants which are most probably explaining the patient's case for the different inheritance models...

 Job ID: examples/1487347484403, received at Friday 17th of February 2017 01:06:05 PM (GMT-3)
 Email address: genio@ibioba-mpsp-conicet.gov.ar
 VCF file: schinzel_giedion.vcf
 Status: Done
 Observed symptoms: Anteverted nares, Coarse facial features, Cognitive impairment,
 Suspected disease: -None-
 Complementary findings: Hypertelorism, Hypertonia,
 Frequency threshold for the recessive model: 0.001  (0.1%)
 Frequency threshold for the dominant model: Not observed
 Genes of your specific interest: CTBP2

Hospital Ramos Mejia  IIMT MPG IBioBA

Last updated 10th April 2017. Version 1.0
Please send comments and suggestions to
genio@ibioba-mpsp-conicet.gov.ar

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