Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance

BACKGROUND: Genomic DNA reference materials are widely recognized as essential for ensuring data quality in omics research. However, relying solely on reference datasets to evaluate the accuracy of variant calling results is incomplete, as they are limited to benchmark regions. Therefore, it is impo...

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Detalles Bibliográficos
Autores principales: Ren, Luyao, Duan, Xiaoke, Dong, Lianhua, Zhang, Rui, Yang, Jingcheng, Gao, Yuechen, Peng, Rongxue, Hou, Wanwan, Liu, Yaqing, Li, Jingjing, Yu, Ying, Zhang, Naixin, Shang, Jun, Liang, Fan, Wang, Depeng, Chen, Hui, Sun, Lele, Hao, Lingtong, Scherer, Andreas, Nordlund, Jessica, Xiao, Wenming, Xu, Joshua, Tong, Weida, Hu, Xin, Jia, Peng, Ye, Kai, Li, Jinming, Jin, Li, Hong, Huixiao, Wang, Jing, Fan, Shaohua, Fang, Xiang, Zheng, Yuanting, Shi, Leming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680274/
https://www.ncbi.nlm.nih.gov/pubmed/38012772
http://dx.doi.org/10.1186/s13059-023-03109-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680274/
https://www.ncbi.nlm.nih.gov/pubmed/38012772
http://dx.doi.org/10.1186/s13059-023-03109-2

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