Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet
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Author / Creator
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 and Ye, Kai
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 four short and long sequencing platforms (Illumina, BGI, PacBi...
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Full title
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet
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TN_cdi_doaj_primary_oai_doaj_org_article_693c72c4aed949f9a781485d8e548871
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_693c72c4aed949f9a781485d8e548871
Other Identifiers
ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-023-03116-3
