Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

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 e...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9518893/
https://www.ncbi.nlm.nih.gov/pubmed/36112662
http://dx.doi.org/10.1371/journal.pgen.1009923

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