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Recent advances and challenges of rare variant association analysis in the biobank sequencing era

Causal variants for rare genetic diseases are often rare in the general population. Rare variants may also contribute to common complex traits and can have much larger per-allele effect sizes than common variants, although power to detect these associations can be limited. Sequencing costs have stea...

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Detalles Bibliográficos
Autores principales: Chen, Wenan, Coombes, Brandon J., Larson, Nicholas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582646/
https://www.ncbi.nlm.nih.gov/pubmed/36276986
http://dx.doi.org/10.3389/fgene.2022.1014947