Table 2 Strategies for gene discovery
Characteristics | Approach to analysis |
|---|---|
Unrelated individuals or families affected by the same very rare but highly relatable clinical condition | Identify a common disease-associated gene or pathway shared between unrelated affected individuals |
Inbred (e.g., consanguineous) families | Map based on homozygosity to exclude most of the genome |
Autosomal-dominant families | Map to exclude most of the genome |
Non-inbred families with two or more affected siblings | Identify compound-heterozygous variants (in the same gene) shared between affected siblings |
Single affected individuals with no family history | Identify deleterious variants in genes with disease associations |