Table 1.
Importance of the functional analysis in various types of human genetics studies
Analysis of Mendelian traits |
Analysis of rare variants in complex traits |
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Interpretation of variants in previously mapped genes |
Mapping genes by whole-genome/exome sequencing | Analysis of rare variants in candidate genes |
Mapping genes by whole-genome/exome sequencing | ||||
Uncharacterized variants not known to be de novo | De novo mutations | Segregating variants | De novo mutations | Rare variants | De novo mutations | Rare variants | De novo mutations |
Analysis of the functional effect and causality is essential | Usually regarded as sufficient evidence of functionality | Functional analysis is not essential to map genes but can potentially increase power | Functional analysis is essential for isolated mutations. Recurrence may provide a statistical argument in favor of functionality | Functional analysis was shown to increase power | Likely a sufficient evidence of functionality | Functional analysis was hypothesized to increase power | Functional analysis is essential for isolated mutations. Recurrence may provide a statistical argument in favor of functionality |