Phenome Dashboard
Overview
How to use
- How to start a patient
- Presence menu: add findings to Phenotype
- Initial finding input options
- Iteratively refine differential diagnosis
- Assess the differential diagnosis and develop a plan
- Document and share results
- FAQs
Adding detailed test results
Specific situations
- Child Abuse: The Differential Diagnosis of Child Abuse and the Child Abuse Workup
- Prenatal diagnosis: Prenatal use
Genome-Phenome Dashboard
Overview
How to use
- Upload annotated variant tables
- The mini-variant table, refining the differential diagnosis, and an example
- Reporting Return of Results
- FAQs
Specific situations
- Loss of heterozygosity
- Microarray results
- Incidental and discovery genes
- Variants too frequent for disease incidence
- Advanced analysis: Pseudoautosomal genes and X-linked, including X-linked adrenoleukodystrophy