Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies

The importance of structural variants (SVs) for human phenotypes and diseases is now recognized. Although a variety of SV detection platforms and strategies that vary in sensitivity and specificity have been developed, few benchmarking procedures are available to confidently assess their performance...

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Detalles Bibliográficos
Autores principales: Du, Xiao, Li, Lili, Liang, Fan, Liu, Sanyang, Zhang, Wenxin, Sun, Shuai, Sun, Yuhui, Fan, Fei, Wang, Linying, Liang, Xinming, Qiu, Weijin, Fan, Guangyi, Wang, Ou, Yang, Weifei, Zhang, Jiezhong, Xiao, Yuhui, Wang, Yang, Wang, Depeng, Qu, Shoufang, Chen, Fang, Huang, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9510867/
https://www.ncbi.nlm.nih.gov/pubmed/33662625
http://dx.doi.org/10.1016/j.gpb.2020.10.006

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