Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

BACKGROUND: Recent state-of-the-art sequencing technologies enable the investigation of challenging regions in the human genome and expand the scope of variant benchmarking datasets. Herein, we sequence a Chinese Quartet, comprising two monozygotic twin daughters and their biological parents, using...

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Detalles Bibliográficos
Autores principales: Jia, Peng, Dong, Lianhua, Yang, Xiaofei, Wang, Bo, Bush, Stephen J., Wang, Tingjie, Lin, Jiadong, Wang, Songbo, Zhao, Xixi, Xu, Tun, Che, Yizhuo, Dang, Ningxin, Ren, Luyao, Zhang, Yujing, Wang, Xia, Liang, Fan, Wang, Yang, Ruan, Jue, Xia, Han, Zheng, Yuanting, Shi, Leming, Lv, Yi, Wang, Jing, Ye, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694985/
http://dx.doi.org/10.1186/s13059-023-03116-3

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