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. 2012 Sep 17;21(R1):R10–R17. doi: 10.1093/hmg/dds385

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
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