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MagicalRsq: Machine-learning-based genotype imputation quality calibration

Whole-genome sequencing (WGS) is the gold standard for fully characterizing genetic variation but is still prohibitively expensive for large samples. To reduce costs, many studies sequence only a subset of individuals or genomic regions, and genotype imputation is used to infer genotypes for the rem...

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Detalles Bibliográficos
Autores principales: Sun, Quan, Yang, Yingxi, Rosen, Jonathan D., Jiang, Min-Zhi, Chen, Jiawen, Liu, Weifang, Wen, Jia, Raffield, Laura M., Pace, Rhonda G., Zhou, Yi-Hui, Wright, Fred A., Blackman, Scott M., Bamshad, Michael J., Gibson, Ronald L., Cutting, Garry R., Knowles, Michael R., Schrider, Daniel R., Fuchsberger, Christian, Li, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674945/
https://www.ncbi.nlm.nih.gov/pubmed/36198314
http://dx.doi.org/10.1016/j.ajhg.2022.09.009