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Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

Copy-number variations (CNV) are believed to play an important role in a wide range of complex traits, but discovering such associations remains challenging. While whole-genome sequencing (WGS) is the gold-standard approach for CNV detection, there are several orders of magnitude more samples with a...

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Detalles Bibliográficos
Autores principales: Lepamets, Maarja, Auwerx, Chiara, Nõukas, Margit, Claringbould, Annique, Porcu, Eleonora, Kals, Mart, Jürgenson, Tuuli, Morris, Andrew Paul, Võsa, Urmo, Bochud, Murielle, Stringhini, Silvia, Wijmenga, Cisca, Franke, Lude, Peterson, Hedi, Vilo, Jaak, Lepik, Kaido, Mägi, Reedik, Kutalik, Zoltán
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399386/
https://www.ncbi.nlm.nih.gov/pubmed/36035246
http://dx.doi.org/10.1016/j.xhgg.2022.100133