Factors that increase the likelihood of monogenic disease and/or facilitate the interpretation of genome-wide data
| Family history | Similarly affected individuals Recognizable pattern of inheritance Consanguinity |
| Phenotype | Severity of phenotype Specificity of clinical presentation (eg, neuropathy, metabolic disease) |
| Clinical interpretation | Careful patient phenotyping (eg, detailed physical exam, imaging, chemistry) Normal chromosomal microarray analysis and other relevant laboratory testing Exclusion of acquired causes (eg, infection) |