Article
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
PLoS genetics - 1 Sept 2022
Bocher Ozvan, Ludwig Thomas E, Oglobinsky Marie-Sophie, Marenne Gaëlle, Deleuze Jean-François, Suryakant Suryakant, Odeberg Jacob, Morange Pierre-Emmanuel, Trégouët David-Alexandre, Perdry Hervé, Génin Emmanuelle
Abstract excerpt
Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require to aggregate rare variants in testing units and to filter variants to retain only the most likely causal ones. In the exome, genes are natural testing units and variants are usually filtered based on their functional consequences....
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