Learn to use Dashboard products

Phenome Dashboard

Overview

• SimulConsult conventions worth knowing

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How to use

• How to start a patient
• Presence menu: add findings to Phenotype
• Initial finding input options
• Iteratively refine differential diagnosis
• Assess differential diagnosis & develop plan
• Document and share results
• FAQs

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Adding detailed test results

• Genetic results at the gene zygosity level
• Organic acid testing

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Specific situations

• Child Abuse: The Differential Diagnosis of Child Abuse and the Child Abuse Workup
• Prenatal diagnosis: Prenatal use

Genome-Phenome Dashboard

Overview

• Genome Phenome Dashboard overview

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How to use

• Upload annotated variant tables
• The mini-variant table and an example
• Reporting Return of Results
• FAQs

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Setup

• Set up annotated variant table fields
• Effect terms recognized
• Set variant parameters

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Specific situations

• Loss of heterozygosity (regions of homozygosity in microarrays)
• Incidental and discovery genes
• Variants too frequent for disease incidence
• Advanced analysis: Pseudoautosomal genes and sophisticated analysis of X-linked diseases